nando_id mondo_id omim_id person id disease image gender gene ncbi minzoku minzokumemo image_id image_desc image_update pmid pmid_url age_year age_month age_memo NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/8596 8596 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_13481 female TWIST1 http://identifiers.org/ncbigene/7291 African - North Egyptian 13481 Frontal face 2022-12-12 20:52:00 UTC "" "" 27 9 Affected mother NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13776 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13776 Frontal face 2023-01-27 16:03:16 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13776 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13776 Frontal face 2023-01-27 16:03:16 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13777 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13777 Profile 2023-01-27 16:03:40 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13777 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13777 Profile 2023-01-27 16:03:40 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13778 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13778 Limbs 2023-01-27 16:04:22 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13778 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13778 Limbs 2023-01-27 16:04:22 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13779 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13779 Others 2023-01-27 16:04:45 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13779 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13779 Others 2023-01-27 16:04:45 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13780 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13780 Limbs 2023-01-27 16:05:04 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8730 8730 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13780 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13780 Limbs 2023-01-27 16:05:04 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 41 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13781 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13781 Frontal face 2023-01-27 16:19:44 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13781 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13781 Frontal face 2023-01-27 16:19:44 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13782 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13782 Limbs 2023-01-27 16:19:55 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13782 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13782 Limbs 2023-01-27 16:19:55 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13783 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13783 Frontal face 2023-01-27 16:20:17 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13783 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13783 Frontal face 2023-01-27 16:20:17 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13784 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13784 Profile 2023-01-27 16:20:25 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13784 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13784 Profile 2023-01-27 16:20:25 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13785 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13785 Frontal face 2023-01-27 16:21:28 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8731 8731 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13785 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13785 Frontal face 2023-01-27 16:21:28 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8732 8732 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13786 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13786 Frontal face 2023-01-27 16:31:30 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 37 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8732 8732 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13786 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13786 Frontal face 2023-01-27 16:31:30 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 37 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8732 8732 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13787 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13787 Profile 2023-01-27 16:31:46 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 37 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8732 8732 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13787 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13787 Profile 2023-01-27 16:31:46 UTC 29782338 http://rdf.ncbi.nlm.nih.gov/pubmed/29782338 37 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13788 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13788 Frontal face 2023-01-28 09:38:56 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13788 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13788 Frontal face 2023-01-28 09:38:56 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13789 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13789 Limbs 2023-01-28 09:39:03 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13789 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13789 Limbs 2023-01-28 09:39:03 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13790 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13790 Limbs 2023-01-28 09:39:11 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13790 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13790 Limbs 2023-01-28 09:39:11 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13791 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13791 Limbs 2023-01-28 09:39:18 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13791 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13791 Limbs 2023-01-28 09:39:18 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13792 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13792 Limbs 2023-01-28 09:39:26 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13792 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13792 Limbs 2023-01-28 09:39:26 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 6 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13793 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13793 Frontal face 2023-01-28 09:33:33 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8733 8733 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13793 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13793 Frontal face 2023-01-28 09:33:33 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13794 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13794 Frontal face 2023-01-28 09:40:23 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13794 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13794 Frontal face 2023-01-28 09:40:23 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13795 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13795 Limbs 2023-01-28 09:40:31 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13795 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13795 Limbs 2023-01-28 09:40:31 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13796 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13796 Limbs 2023-01-28 09:40:47 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13796 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13796 Limbs 2023-01-28 09:40:47 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13797 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13797 Limbs 2023-01-28 09:41:04 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13797 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13797 Limbs 2023-01-28 09:41:04 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13798 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13798 Limbs 2023-01-28 09:41:20 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8734 8734 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13798 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian Thai 13798 Limbs 2023-01-28 09:41:20 UTC 36292735 http://rdf.ncbi.nlm.nih.gov/pubmed/36292735 0 3 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8736 8736 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13803 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13803 Frontal face 2023-01-29 07:50:34 UTC 35812652 http://rdf.ncbi.nlm.nih.gov/pubmed/35812652 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8736 8736 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13803 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13803 Frontal face 2023-01-29 07:50:34 UTC 35812652 http://rdf.ncbi.nlm.nih.gov/pubmed/35812652 6 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8736 8736 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13804 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13804 Profile 2023-01-29 07:50:46 UTC 35812652 http://rdf.ncbi.nlm.nih.gov/pubmed/35812652 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8736 8736 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13804 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13804 Profile 2023-01-29 07:50:46 UTC 35812652 http://rdf.ncbi.nlm.nih.gov/pubmed/35812652 6 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8736 8736 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13805 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13805 Others 2023-01-29 07:51:15 UTC 35812652 http://rdf.ncbi.nlm.nih.gov/pubmed/35812652 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8736 8736 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13805 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13805 Others 2023-01-29 07:51:15 UTC 35812652 http://rdf.ncbi.nlm.nih.gov/pubmed/35812652 6 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8736 8736 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13806 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13806 Profile 2023-01-29 07:51:37 UTC 35812652 http://rdf.ncbi.nlm.nih.gov/pubmed/35812652 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8736 8736 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13806 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 13806 Profile 2023-01-29 07:51:37 UTC 35812652 http://rdf.ncbi.nlm.nih.gov/pubmed/35812652 6 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8766 8766 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13857 female FMR1 http://identifiers.org/ncbigene/2332 Caucasian Anglo-Saxon 13857 Frontal face 2023-02-07 11:34:42 UTC 1302032 http://rdf.ncbi.nlm.nih.gov/pubmed/1302032 19 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8766 8766 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13857 female FMR1 http://identifiers.org/ncbigene/2332 Caucasian Anglo-Saxon 13857 Frontal face 2023-02-07 11:34:42 UTC 1302032 http://rdf.ncbi.nlm.nih.gov/pubmed/1302032 19 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/8185 8185 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_12946 male MAGEL2 http://identifiers.org/ncbigene/54551 African - Sub-Saharan Mixed ancestry 12946 Frontal face 2022-11-15 13:15:35 UTC "" "" 0 11 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/8210 8210 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_12970 female GALNS http://identifiers.org/ncbigene/2588 African - Sub-Saharan Cape Town 12970 Frontal face 2022-11-15 13:08:42 UTC "" "" 7 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/8210 8210 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_12970 female GALNS http://identifiers.org/ncbigene/2588 African - Sub-Saharan Cape Town 12970 Frontal face 2022-11-15 13:08:42 UTC "" "" 7 0 "" NANDO:2201360 MONDO:0010555 OMIM:302950 https://db.gestaltmatcher.org/patients/8284 8284 CHONDRODYSPLASIA PUNCTATA 1, X-LINKED RECESSIVE https://db.gestaltmatcher.org/patients/image_13062 male ARSE http://identifiers.org/ncbigene/415 African - Sub-Saharan Mixed ancestry 13062 Frontal face 2022-11-21 13:19:47 UTC "" "" 0 7 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/8596 8596 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_13480 female TWIST1 http://identifiers.org/ncbigene/7291 African - North Egyptian 13480 Frontal face 2022-12-12 20:50:40 UTC "" "" 1 2 "" NANDO:1201147 MONDO:0015004 OMIM:617284 https://db.gestaltmatcher.org/patients/859 859 DYSTONIA 28, CHILDHOOD-ONSET https://db.gestaltmatcher.org/patients/image_1078 female KMT2B http://identifiers.org/ncbigene/9757 Caucasian "" 1078 Frontal face 2022-02-25 16:32:37 UTC 29276005 http://rdf.ncbi.nlm.nih.gov/pubmed/29276005 11 0 "" NANDO:1201147 MONDO:0015004 OMIM:617284 https://db.gestaltmatcher.org/patients/859 859 DYSTONIA 28, CHILDHOOD-ONSET https://db.gestaltmatcher.org/patients/image_1079 female KMT2B http://identifiers.org/ncbigene/9757 Caucasian "" 1079 Profile 2021-04-14 12:11:40 UTC 29276005 http://rdf.ncbi.nlm.nih.gov/pubmed/29276005 11 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8215 8215 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12977 male ATRX http://identifiers.org/ncbigene/546 European "" 12977 Frontal face 2022-11-15 15:45:19 UTC 19444090 http://rdf.ncbi.nlm.nih.gov/pubmed/19444090 0 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8215 8215 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12977 male ATRX http://identifiers.org/ncbigene/546 European "" 12977 Frontal face 2022-11-15 15:45:19 UTC 19444090 http://rdf.ncbi.nlm.nih.gov/pubmed/19444090 0 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8215 8215 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12978 male ATRX http://identifiers.org/ncbigene/546 European "" 12978 Frontal face 2022-11-15 15:45:35 UTC 19444090 http://rdf.ncbi.nlm.nih.gov/pubmed/19444090 2 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8215 8215 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12978 male ATRX http://identifiers.org/ncbigene/546 European "" 12978 Frontal face 2022-11-15 15:45:35 UTC 19444090 http://rdf.ncbi.nlm.nih.gov/pubmed/19444090 2 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8215 8215 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12979 male ATRX http://identifiers.org/ncbigene/546 European "" 12979 Profile 2022-11-15 15:45:46 UTC 19444090 http://rdf.ncbi.nlm.nih.gov/pubmed/19444090 2 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8215 8215 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12979 male ATRX http://identifiers.org/ncbigene/546 European "" 12979 Profile 2022-11-15 15:45:46 UTC 19444090 http://rdf.ncbi.nlm.nih.gov/pubmed/19444090 2 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8297 8297 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13079 male ATRX http://identifiers.org/ncbigene/546 Asian "" 13079 Frontal face 2022-11-22 15:26:20 UTC 21218045 http://rdf.ncbi.nlm.nih.gov/pubmed/21218045 0 6 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8297 8297 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13079 male ATRX http://identifiers.org/ncbigene/546 Asian "" 13079 Frontal face 2022-11-22 15:26:20 UTC 21218045 http://rdf.ncbi.nlm.nih.gov/pubmed/21218045 0 6 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8297 8297 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13080 male ATRX http://identifiers.org/ncbigene/546 Asian "" 13080 Frontal face 2022-11-22 15:26:30 UTC 21218045 http://rdf.ncbi.nlm.nih.gov/pubmed/21218045 3 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8297 8297 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13080 male ATRX http://identifiers.org/ncbigene/546 Asian "" 13080 Frontal face 2022-11-22 15:26:30 UTC 21218045 http://rdf.ncbi.nlm.nih.gov/pubmed/21218045 3 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8298 8298 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13081 male ATRX http://identifiers.org/ncbigene/546 Asian - South/Indian "" 13081 Frontal face 2022-11-22 15:41:24 UTC 22089611 http://rdf.ncbi.nlm.nih.gov/pubmed/22089611 0 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8298 8298 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13081 male ATRX http://identifiers.org/ncbigene/546 Asian - South/Indian "" 13081 Frontal face 2022-11-22 15:41:24 UTC 22089611 http://rdf.ncbi.nlm.nih.gov/pubmed/22089611 0 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8299 8299 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13082 male ATRX http://identifiers.org/ncbigene/546 Asian - South/Indian "" 13082 Frontal face 2022-11-22 15:54:55 UTC 22089611 http://rdf.ncbi.nlm.nih.gov/pubmed/22089611 0 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8299 8299 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13082 male ATRX http://identifiers.org/ncbigene/546 Asian - South/Indian "" 13082 Frontal face 2022-11-22 15:54:55 UTC 22089611 http://rdf.ncbi.nlm.nih.gov/pubmed/22089611 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/8664 8664 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_13629 female TCF4 http://identifiers.org/ncbigene/6925 European "" 13629 Frontal face 2022-12-31 12:47:46 UTC 28807867 http://rdf.ncbi.nlm.nih.gov/pubmed/28807867 44 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/8664 8664 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_13630 female TCF4 http://identifiers.org/ncbigene/6925 European "" 13630 Frontal face 2022-12-31 12:47:51 UTC 28807867 http://rdf.ncbi.nlm.nih.gov/pubmed/28807867 6 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8680 8680 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13651 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13651 Frontal face 2023-01-05 11:31:35 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 1 5 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8680 8680 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13652 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13652 Limbs 2023-01-05 11:31:51 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 1 5 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8680 8680 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13653 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13653 Others 2023-01-05 11:32:38 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 1 5 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8680 8680 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13654 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13654 MRI 2023-01-05 11:33:02 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 1 5 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8680 8680 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13655 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13655 MRI 2023-01-05 11:33:22 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 1 5 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8680 8680 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13656 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13656 MRI 2023-01-05 11:33:39 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 1 5 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8681 8681 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13657 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13657 Frontal face 2023-01-05 11:45:39 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 19 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8681 8681 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13658 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13658 Others 2023-01-05 11:45:51 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 19 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8681 8681 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13659 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13659 Limbs 2023-01-05 11:46:07 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 19 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8681 8681 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13660 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13660 Limbs 2023-01-05 11:46:34 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 19 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8681 8681 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13661 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13661 Limbs 2023-01-05 11:46:53 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 6 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8681 8681 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13662 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13662 Limbs 2023-01-05 11:47:11 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 6 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8681 8681 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13663 male PIK3CA http://identifiers.org/ncbigene/5290 European - Southern "" 13663 Limbs 2023-01-05 11:47:29 UTC 35740480 http://rdf.ncbi.nlm.nih.gov/pubmed/35740480 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8729 8729 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13773 female FGFR2 http://identifiers.org/ncbigene/2263 African "" 13773 Frontal face 2023-01-27 15:34:21 UTC 34909104 http://rdf.ncbi.nlm.nih.gov/pubmed/34909104 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8729 8729 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13773 female FGFR2 http://identifiers.org/ncbigene/2263 African "" 13773 Frontal face 2023-01-27 15:34:21 UTC 34909104 http://rdf.ncbi.nlm.nih.gov/pubmed/34909104 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8729 8729 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13774 female FGFR2 http://identifiers.org/ncbigene/2263 African "" 13774 Limbs 2023-01-27 15:34:39 UTC 34909104 http://rdf.ncbi.nlm.nih.gov/pubmed/34909104 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8729 8729 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13774 female FGFR2 http://identifiers.org/ncbigene/2263 African "" 13774 Limbs 2023-01-27 15:34:39 UTC 34909104 http://rdf.ncbi.nlm.nih.gov/pubmed/34909104 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8729 8729 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13775 female FGFR2 http://identifiers.org/ncbigene/2263 African "" 13775 Limbs 2023-01-27 15:35:01 UTC 34909104 http://rdf.ncbi.nlm.nih.gov/pubmed/34909104 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8729 8729 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13775 female FGFR2 http://identifiers.org/ncbigene/2263 African "" 13775 Limbs 2023-01-27 15:35:01 UTC 34909104 http://rdf.ncbi.nlm.nih.gov/pubmed/34909104 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8767 8767 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13858 male FMR1 http://identifiers.org/ncbigene/2332 African "" 13858 Frontal face 2023-02-07 11:57:25 UTC 29319541 http://rdf.ncbi.nlm.nih.gov/pubmed/29319541 18 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8767 8767 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13858 male FMR1 http://identifiers.org/ncbigene/2332 African "" 13858 Frontal face 2023-02-07 11:57:25 UTC 29319541 http://rdf.ncbi.nlm.nih.gov/pubmed/29319541 18 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8767 8767 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13859 male FMR1 http://identifiers.org/ncbigene/2332 African "" 13859 Profile 2023-02-07 11:57:46 UTC 29319541 http://rdf.ncbi.nlm.nih.gov/pubmed/29319541 18 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8767 8767 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13859 male FMR1 http://identifiers.org/ncbigene/2332 African "" 13859 Profile 2023-02-07 11:57:46 UTC 29319541 http://rdf.ncbi.nlm.nih.gov/pubmed/29319541 18 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8767 8767 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13860 male FMR1 http://identifiers.org/ncbigene/2332 African "" 13860 Limbs 2023-02-07 11:58:04 UTC 29319541 http://rdf.ncbi.nlm.nih.gov/pubmed/29319541 18 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8767 8767 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13860 male FMR1 http://identifiers.org/ncbigene/2332 African "" 13860 Limbs 2023-02-07 11:58:04 UTC 29319541 http://rdf.ncbi.nlm.nih.gov/pubmed/29319541 18 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8767 8767 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13861 male FMR1 http://identifiers.org/ncbigene/2332 African "" 13861 Limbs 2023-02-07 11:58:22 UTC 29319541 http://rdf.ncbi.nlm.nih.gov/pubmed/29319541 18 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8767 8767 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13861 male FMR1 http://identifiers.org/ncbigene/2332 African "" 13861 Limbs 2023-02-07 11:58:22 UTC 29319541 http://rdf.ncbi.nlm.nih.gov/pubmed/29319541 18 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8769 8769 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13864 female FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 13864 Frontal face 2023-02-13 23:02:46 UTC 10398226 http://rdf.ncbi.nlm.nih.gov/pubmed/10398226 19 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8769 8769 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13864 female FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 13864 Frontal face 2023-02-13 23:02:46 UTC 10398226 http://rdf.ncbi.nlm.nih.gov/pubmed/10398226 19 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8770 8770 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13865 male FMR1 http://identifiers.org/ncbigene/2332 European "" 13865 Frontal face 2023-02-14 00:19:52 UTC 1642231 http://rdf.ncbi.nlm.nih.gov/pubmed/1642231 25 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8770 8770 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13865 male FMR1 http://identifiers.org/ncbigene/2332 European "" 13865 Frontal face 2023-02-14 00:19:52 UTC 1642231 http://rdf.ncbi.nlm.nih.gov/pubmed/1642231 25 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8770 8770 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13866 male FMR1 http://identifiers.org/ncbigene/2332 European "" 13866 Profile 2023-02-14 00:20:49 UTC 1642231 http://rdf.ncbi.nlm.nih.gov/pubmed/1642231 25 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8770 8770 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13866 male FMR1 http://identifiers.org/ncbigene/2332 European "" 13866 Profile 2023-02-14 00:20:49 UTC 1642231 http://rdf.ncbi.nlm.nih.gov/pubmed/1642231 25 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/8285 8285 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_13063 female TCF4 http://identifiers.org/ncbigene/6925 African - Sub-Saharan "" 13063 Frontal face 2022-11-21 13:25:50 UTC "" "" 4 5 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/8503 8503 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_13317 female LMNA http://identifiers.org/ncbigene/4000 African - North "" 13317 Frontal face 2022-12-06 18:46:34 UTC "" "" 0 10 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/8503 8503 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_13317 female LMNA http://identifiers.org/ncbigene/4000 African - North "" 13317 Frontal face 2022-12-06 18:46:34 UTC "" "" 0 10 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/8510 8510 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_13323 female KMT2A http://identifiers.org/ncbigene/4297 African - North "" 13323 Frontal face 2022-12-06 19:06:28 UTC "" "" 1 9 "" NANDO:1201058 MONDO:0009955 OMIM:266280 https://db.gestaltmatcher.org/patients/8532 8532 RAPADILINO SYNDROME https://db.gestaltmatcher.org/patients/image_13398 male RECQL4 http://identifiers.org/ncbigene/9401 African - North "" 13398 Frontal face 2022-12-09 13:20:38 UTC "" "" 12 5 "" NANDO:2201531 MONDO:0009955 OMIM:266280 https://db.gestaltmatcher.org/patients/8532 8532 RAPADILINO SYNDROME https://db.gestaltmatcher.org/patients/image_13398 male RECQL4 http://identifiers.org/ncbigene/9401 African - North "" 13398 Frontal face 2022-12-09 13:20:38 UTC "" "" 12 5 "" NANDO:2200188 MONDO:0010645 OMIM:309000 https://db.gestaltmatcher.org/patients/8545 8545 LOWE OCULOCEREBRORENAL SYNDROME https://db.gestaltmatcher.org/patients/image_13412 male OCRL http://identifiers.org/ncbigene/4952 African - North "" 13412 Frontal face 2022-12-09 18:13:58 UTC "" "" 1 10 "" NANDO:1201116 MONDO:0010645 OMIM:309000 https://db.gestaltmatcher.org/patients/8545 8545 LOWE OCULOCEREBRORENAL SYNDROME https://db.gestaltmatcher.org/patients/image_13412 male OCRL http://identifiers.org/ncbigene/4952 African - North "" 13412 Frontal face 2022-12-09 18:13:58 UTC "" "" 1 10 "" NANDO:2200188 MONDO:0010645 OMIM:309000 https://db.gestaltmatcher.org/patients/8546 8546 LOWE OCULOCEREBRORENAL SYNDROME https://db.gestaltmatcher.org/patients/image_13413 male OCRL http://identifiers.org/ncbigene/4952 African - North "" 13413 Frontal face 2022-12-09 18:32:32 UTC "" "" 1 8 "" NANDO:1201116 MONDO:0010645 OMIM:309000 https://db.gestaltmatcher.org/patients/8546 8546 LOWE OCULOCEREBRORENAL SYNDROME https://db.gestaltmatcher.org/patients/image_13413 male OCRL http://identifiers.org/ncbigene/4952 African - North "" 13413 Frontal face 2022-12-09 18:32:32 UTC "" "" 1 8 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8548 8548 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_13417 female NSD1 http://identifiers.org/ncbigene/64324 African - North "" 13417 Frontal face 2023-07-14 22:32:34 UTC "" "" 19 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8548 8548 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_13417 female NSD1 http://identifiers.org/ncbigene/64324 African - North "" 13417 Frontal face 2023-07-14 22:32:34 UTC "" "" 19 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8549 8549 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_13418 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 13418 Frontal face 2023-07-14 22:33:50 UTC "" "" 20 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8549 8549 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_13418 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 13418 Frontal face 2023-07-14 22:33:50 UTC "" "" 20 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8550 8550 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_13420 female NSD1 http://identifiers.org/ncbigene/64324 African - North "" 13420 Frontal face 2023-07-14 22:33:24 UTC "" "" 3 5 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8550 8550 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_13420 female NSD1 http://identifiers.org/ncbigene/64324 African - North "" 13420 Frontal face 2023-07-14 22:33:24 UTC "" "" 3 5 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8551 8551 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_13426 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 13426 Frontal face 2022-12-09 19:40:40 UTC "" "" 3 8 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8551 8551 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_13426 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 13426 Frontal face 2022-12-09 19:40:40 UTC "" "" 3 8 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/8555 8555 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_13434 male KMT2A http://identifiers.org/ncbigene/4297 African - North "" 13434 Frontal face 2023-07-14 22:35:35 UTC "" "" 7 0 "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/8565 8565 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_13446 female ERCC8 http://identifiers.org/ncbigene/1161 African - North "" 13446 Frontal face 2022-12-09 22:59:47 UTC "" "" 2 8 "" NANDO:1200580 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/8590 8590 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_13473 male SLC16A2 http://identifiers.org/ncbigene/6567 African - North "" 13473 Frontal face 2022-12-12 16:24:29 UTC "" "" 3 0 "" NANDO:2201292 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/8590 8590 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_13473 male SLC16A2 http://identifiers.org/ncbigene/6567 African - North "" 13473 Frontal face 2022-12-12 16:24:29 UTC "" "" 3 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/8602 8602 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_13491 female CHD7 http://identifiers.org/ncbigene/55636 African - North "" 13491 Frontal face 2022-12-13 09:39:46 UTC "" "" 24 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/8602 8602 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_13491 female CHD7 http://identifiers.org/ncbigene/55636 African - North "" 13491 Frontal face 2022-12-13 09:39:46 UTC "" "" 24 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8756 8756 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13847 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13847 Frontal face 2023-02-07 10:31:11 UTC "" "" 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8756 8756 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13847 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13847 Frontal face 2023-02-07 10:31:11 UTC "" "" 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8757 8757 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13848 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13848 Frontal face 2023-02-07 10:33:04 UTC "" "" 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8757 8757 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13848 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13848 Frontal face 2023-02-07 10:33:04 UTC "" "" 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8758 8758 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13849 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13849 Frontal face 2023-02-07 10:34:07 UTC "" "" 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8758 8758 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13849 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13849 Frontal face 2023-02-07 10:34:07 UTC "" "" 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8759 8759 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13850 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13850 Frontal face 2023-02-07 10:34:58 UTC "" "" 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8759 8759 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13850 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13850 Frontal face 2023-02-07 10:34:58 UTC "" "" 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8760 8760 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13851 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13851 Frontal face 2023-02-07 10:35:57 UTC "" "" 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8760 8760 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13851 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13851 Frontal face 2023-02-07 10:35:57 UTC "" "" 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8761 8761 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13852 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13852 Frontal face 2023-02-07 10:36:51 UTC "" "" 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8761 8761 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13852 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13852 Frontal face 2023-02-07 10:36:51 UTC "" "" 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8762 8762 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13853 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13853 Frontal face 2023-02-07 10:37:42 UTC "" "" 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8762 8762 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13853 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13853 Frontal face 2023-02-07 10:37:42 UTC "" "" 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8763 8763 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13854 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13854 Frontal face 2023-02-07 10:38:26 UTC "" "" 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8763 8763 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13854 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 13854 Frontal face 2023-02-07 10:38:26 UTC "" "" 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8548 8548 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_15061 female NSD1 http://identifiers.org/ncbigene/64324 African - North "" 15061 Frontal face 2023-07-14 22:40:08 UTC "" "" 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8548 8548 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_15061 female NSD1 http://identifiers.org/ncbigene/64324 African - North "" 15061 Frontal face 2023-07-14 22:40:08 UTC "" "" 0 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8240 8240 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13006 male ATRX http://identifiers.org/ncbigene/546 "" "" 13006 Frontal face 2022-11-17 08:38:41 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 0 0 14 days NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8240 8240 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13006 male ATRX http://identifiers.org/ncbigene/546 "" "" 13006 Frontal face 2022-11-17 08:38:41 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 0 0 14 days NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8231 8231 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12995 male ATRX http://identifiers.org/ncbigene/546 "" "" 12995 Frontal face 2022-11-16 12:18:58 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 13 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8231 8231 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12995 male ATRX http://identifiers.org/ncbigene/546 "" "" 12995 Frontal face 2022-11-16 12:18:58 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 13 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8232 8232 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12996 male ATRX http://identifiers.org/ncbigene/546 "" "" 12996 Frontal face 2022-11-16 12:44:10 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 1 6 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8232 8232 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12996 male ATRX http://identifiers.org/ncbigene/546 "" "" 12996 Frontal face 2022-11-16 12:44:10 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 1 6 "" NANDO:2201273 MONDO:0011399 OMIM:604131 https://db.gestaltmatcher.org/patients/8233 8233 ALPHA-THALASSEMIA https://db.gestaltmatcher.org/patients/image_12997 male ATRX http://identifiers.org/ncbigene/546 "" "" 12997 Frontal face 2022-11-16 13:00:18 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 1 6 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8234 8234 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12998 male ATRX http://identifiers.org/ncbigene/546 "" "" 12998 Frontal face 2022-11-16 16:12:55 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 4 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8234 8234 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12998 male ATRX http://identifiers.org/ncbigene/546 "" "" 12998 Frontal face 2022-11-16 16:12:55 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 4 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8235 8235 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12999 male ATRX http://identifiers.org/ncbigene/546 "" "" 12999 Frontal face 2022-11-16 16:25:36 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 13 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8235 8235 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_12999 male ATRX http://identifiers.org/ncbigene/546 "" "" 12999 Frontal face 2022-11-16 16:25:36 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 13 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8237 8237 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13001 male ATRX http://identifiers.org/ncbigene/546 "" "" 13001 Frontal face 2022-11-17 07:53:32 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 7 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8237 8237 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13001 male ATRX http://identifiers.org/ncbigene/546 "" "" 13001 Frontal face 2022-11-17 07:53:32 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 7 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8238 8238 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13002 male ATRX http://identifiers.org/ncbigene/546 "" "" 13002 Frontal face 2022-11-17 08:10:46 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 4 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8238 8238 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13002 male ATRX http://identifiers.org/ncbigene/546 "" "" 13002 Frontal face 2022-11-17 08:10:46 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 4 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8238 8238 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13003 male ATRX http://identifiers.org/ncbigene/546 "" "" 13003 Frontal face 2022-11-17 08:11:13 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 26 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8238 8238 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13003 male ATRX http://identifiers.org/ncbigene/546 "" "" 13003 Frontal face 2022-11-17 08:11:13 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 26 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8239 8239 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13004 male ATRX http://identifiers.org/ncbigene/546 "" "" 13004 Frontal face 2022-11-17 08:21:37 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 1 6 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8239 8239 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13004 male ATRX http://identifiers.org/ncbigene/546 "" "" 13004 Frontal face 2022-11-17 08:21:37 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 1 6 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8239 8239 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13005 male ATRX http://identifiers.org/ncbigene/546 "" "" 13005 Frontal face 2022-11-17 08:22:10 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 23 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8239 8239 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13005 male ATRX http://identifiers.org/ncbigene/546 "" "" 13005 Frontal face 2022-11-17 08:22:10 UTC 7726225 http://rdf.ncbi.nlm.nih.gov/pubmed/7726225 23 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8300 8300 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13083 male ATRX http://identifiers.org/ncbigene/546 "" "" 13083 Frontal face 2022-11-22 16:23:59 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 3 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8300 8300 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13083 male ATRX http://identifiers.org/ncbigene/546 "" "" 13083 Frontal face 2022-11-22 16:23:59 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 3 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8300 8300 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13084 male ATRX http://identifiers.org/ncbigene/546 "" "" 13084 Frontal face 2022-11-22 16:24:11 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 15 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8300 8300 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13084 male ATRX http://identifiers.org/ncbigene/546 "" "" 13084 Frontal face 2022-11-22 16:24:11 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 15 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8302 8302 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13086 male ATRX http://identifiers.org/ncbigene/546 "" "" 13086 Frontal face 2022-11-22 16:53:22 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 1 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8302 8302 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13086 male ATRX http://identifiers.org/ncbigene/546 "" "" 13086 Frontal face 2022-11-22 16:53:22 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 1 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8302 8302 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13087 male ATRX http://identifiers.org/ncbigene/546 "" "" 13087 Frontal face 2022-11-22 16:53:36 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 4 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8302 8302 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13087 male ATRX http://identifiers.org/ncbigene/546 "" "" 13087 Frontal face 2022-11-22 16:53:36 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 4 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8302 8302 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13088 male ATRX http://identifiers.org/ncbigene/546 "" "" 13088 Frontal face 2022-11-22 16:53:52 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 23 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8302 8302 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13088 male ATRX http://identifiers.org/ncbigene/546 "" "" 13088 Frontal face 2022-11-22 16:53:52 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 23 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8626 8626 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13567 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 13567 Frontal face 2022-12-26 11:10:57 UTC 22729224 http://rdf.ncbi.nlm.nih.gov/pubmed/22729224 0 5 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8626 8626 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13568 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 13568 Frontal face 2022-12-26 11:11:20 UTC 22729224 http://rdf.ncbi.nlm.nih.gov/pubmed/22729224 1 3 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8626 8626 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13569 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 13569 Frontal face 2022-12-26 11:11:50 UTC 22729224 http://rdf.ncbi.nlm.nih.gov/pubmed/22729224 7 6 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8626 8626 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13570 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 13570 Limbs 2022-12-26 11:12:05 UTC 22729224 http://rdf.ncbi.nlm.nih.gov/pubmed/22729224 8 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8764 8764 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13855 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 13855 Frontal face 2023-02-07 11:05:00 UTC 3545014 http://rdf.ncbi.nlm.nih.gov/pubmed/3545014 17 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8764 8764 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13855 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 13855 Frontal face 2023-02-07 11:05:00 UTC 3545014 http://rdf.ncbi.nlm.nih.gov/pubmed/3545014 17 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8765 8765 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13856 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 13856 Frontal face 2023-02-07 11:07:01 UTC 3545014 http://rdf.ncbi.nlm.nih.gov/pubmed/3545014 12 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/8765 8765 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13856 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 13856 Frontal face 2023-02-07 11:07:01 UTC 3545014 http://rdf.ncbi.nlm.nih.gov/pubmed/3545014 12 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8719 8719 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13753 unknown "" "" Asian - South-East Malaysian 13753 Frontal face 2023-01-26 19:02:04 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8719 8719 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13753 unknown "" "" Asian - South-East Malaysian 13753 Frontal face 2023-01-26 19:02:04 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8720 8720 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13754 unknown "" "" Asian - South-East Malaysian 13754 Frontal face 2023-01-26 19:04:04 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8720 8720 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13754 unknown "" "" Asian - South-East Malaysian 13754 Frontal face 2023-01-26 19:04:04 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8721 8721 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13755 female "" "" Asian - South-East Malaysian 13755 Frontal face 2023-01-26 19:05:04 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8721 8721 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13755 female "" "" Asian - South-East Malaysian 13755 Frontal face 2023-01-26 19:05:04 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8722 8722 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13756 unknown "" "" Asian - South-East Malaysian 13756 Frontal face 2023-01-26 19:05:58 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8722 8722 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13756 unknown "" "" Asian - South-East Malaysian 13756 Frontal face 2023-01-26 19:05:58 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8723 8723 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13757 female "" "" Asian - South-East Malaysian 13757 Frontal face 2023-01-26 19:06:58 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8723 8723 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13757 female "" "" Asian - South-East Malaysian 13757 Frontal face 2023-01-26 19:06:58 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8724 8724 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13758 unknown "" "" Asian - South-East Malaysian 13758 Frontal face 2023-01-26 19:07:48 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8724 8724 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13758 unknown "" "" Asian - South-East Malaysian 13758 Frontal face 2023-01-26 19:07:48 UTC 29268076 http://rdf.ncbi.nlm.nih.gov/pubmed/29268076 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8726 8726 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13762 female "" "" American - Latin/Hispanic Colombian 13762 Frontal face 2023-01-26 19:51:50 UTC 35242254 http://rdf.ncbi.nlm.nih.gov/pubmed/35242254 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8726 8726 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13762 female "" "" American - Latin/Hispanic Colombian 13762 Frontal face 2023-01-26 19:51:50 UTC 35242254 http://rdf.ncbi.nlm.nih.gov/pubmed/35242254 6 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8726 8726 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13763 female "" "" American - Latin/Hispanic Colombian 13763 Profile 2023-01-26 19:52:13 UTC 35242254 http://rdf.ncbi.nlm.nih.gov/pubmed/35242254 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8726 8726 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13763 female "" "" American - Latin/Hispanic Colombian 13763 Profile 2023-01-26 19:52:13 UTC 35242254 http://rdf.ncbi.nlm.nih.gov/pubmed/35242254 6 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8728 8728 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13770 female "" "" Asian - East Korean 13770 Frontal face 2023-01-27 15:10:58 UTC 16614535 http://rdf.ncbi.nlm.nih.gov/pubmed/16614535 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8728 8728 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13770 female "" "" Asian - East Korean 13770 Frontal face 2023-01-27 15:10:58 UTC 16614535 http://rdf.ncbi.nlm.nih.gov/pubmed/16614535 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8728 8728 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13771 female "" "" Asian - East Korean 13771 Limbs 2023-01-27 15:11:06 UTC 16614535 http://rdf.ncbi.nlm.nih.gov/pubmed/16614535 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8728 8728 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13771 female "" "" Asian - East Korean 13771 Limbs 2023-01-27 15:11:06 UTC 16614535 http://rdf.ncbi.nlm.nih.gov/pubmed/16614535 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8728 8728 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13772 female "" "" Asian - East Korean 13772 Limbs 2023-01-27 15:11:20 UTC 16614535 http://rdf.ncbi.nlm.nih.gov/pubmed/16614535 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8728 8728 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13772 female "" "" Asian - East Korean 13772 Limbs 2023-01-27 15:11:20 UTC 16614535 http://rdf.ncbi.nlm.nih.gov/pubmed/16614535 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8735 8735 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13799 female "" "" American - Latin/Hispanic Mexican 13799 Frontal face 2023-01-28 10:03:14 UTC 31002276 http://rdf.ncbi.nlm.nih.gov/pubmed/31002276 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8735 8735 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13799 female "" "" American - Latin/Hispanic Mexican 13799 Frontal face 2023-01-28 10:03:14 UTC 31002276 http://rdf.ncbi.nlm.nih.gov/pubmed/31002276 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8735 8735 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13800 female "" "" American - Latin/Hispanic Mexican 13800 Profile 2023-01-28 10:03:20 UTC 31002276 http://rdf.ncbi.nlm.nih.gov/pubmed/31002276 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8735 8735 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13800 female "" "" American - Latin/Hispanic Mexican 13800 Profile 2023-01-28 10:03:20 UTC 31002276 http://rdf.ncbi.nlm.nih.gov/pubmed/31002276 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8735 8735 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13801 female "" "" American - Latin/Hispanic Mexican 13801 Limbs 2023-01-28 10:03:33 UTC 31002276 http://rdf.ncbi.nlm.nih.gov/pubmed/31002276 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8735 8735 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13801 female "" "" American - Latin/Hispanic Mexican 13801 Limbs 2023-01-28 10:03:33 UTC 31002276 http://rdf.ncbi.nlm.nih.gov/pubmed/31002276 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8735 8735 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13802 female "" "" American - Latin/Hispanic Mexican 13802 Limbs 2023-01-28 10:03:49 UTC 31002276 http://rdf.ncbi.nlm.nih.gov/pubmed/31002276 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/8735 8735 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_13802 female "" "" American - Latin/Hispanic Mexican 13802 Limbs 2023-01-28 10:03:49 UTC 31002276 http://rdf.ncbi.nlm.nih.gov/pubmed/31002276 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8737 8737 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13807 male "" "" Asian - South/Indian Indian 13807 Frontal face 2023-01-29 08:41:15 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 13 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8737 8737 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13807 male "" "" Asian - South/Indian Indian 13807 Frontal face 2023-01-29 08:41:15 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 13 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8737 8737 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13808 male "" "" Asian - South/Indian Indian 13808 Profile 2023-01-29 08:41:29 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 13 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8737 8737 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13808 male "" "" Asian - South/Indian Indian 13808 Profile 2023-01-29 08:41:29 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 13 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8737 8737 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13809 male "" "" Asian - South/Indian Indian 13809 Others 2023-01-29 08:41:49 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 13 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8737 8737 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13809 male "" "" Asian - South/Indian Indian 13809 Others 2023-01-29 08:41:49 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 13 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8738 8738 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13810 female "" "" Asian - South/Indian Indian 13810 Frontal face 2023-01-29 08:55:06 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8738 8738 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13810 female "" "" Asian - South/Indian Indian 13810 Frontal face 2023-01-29 08:55:06 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8738 8738 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13811 female "" "" Asian - South/Indian Indian 13811 Profile 2023-01-29 08:55:18 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8738 8738 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13811 female "" "" Asian - South/Indian Indian 13811 Profile 2023-01-29 08:55:18 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8738 8738 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13812 female "" "" Asian - South/Indian Indian 13812 Others 2023-01-29 08:55:34 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8738 8738 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13812 female "" "" Asian - South/Indian Indian 13812 Others 2023-01-29 08:55:34 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8738 8738 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13813 female "" "" Asian - South/Indian Indian 13813 Others 2023-01-29 08:55:52 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8738 8738 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13813 female "" "" Asian - South/Indian Indian 13813 Others 2023-01-29 08:55:52 UTC 22114439 http://rdf.ncbi.nlm.nih.gov/pubmed/22114439 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8739 8739 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13814 male "" "" Asian - East Japanese 13814 Frontal face 2023-01-29 09:16:16 UTC 36195980 http://rdf.ncbi.nlm.nih.gov/pubmed/36195980 62 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8739 8739 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13814 male "" "" Asian - East Japanese 13814 Frontal face 2023-01-29 09:16:16 UTC 36195980 http://rdf.ncbi.nlm.nih.gov/pubmed/36195980 62 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8739 8739 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13815 male "" "" Asian - East Japanese 13815 Profile 2023-01-29 09:16:31 UTC 36195980 http://rdf.ncbi.nlm.nih.gov/pubmed/36195980 62 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8739 8739 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13815 male "" "" Asian - East Japanese 13815 Profile 2023-01-29 09:16:31 UTC 36195980 http://rdf.ncbi.nlm.nih.gov/pubmed/36195980 62 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8741 8741 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13820 male "" "" Asian - South/Indian Indian 13820 Frontal face 2023-01-29 09:45:01 UTC 32587497 http://rdf.ncbi.nlm.nih.gov/pubmed/32587497 0 3 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8741 8741 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13820 male "" "" Asian - South/Indian Indian 13820 Frontal face 2023-01-29 09:45:01 UTC 32587497 http://rdf.ncbi.nlm.nih.gov/pubmed/32587497 0 3 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8741 8741 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13821 male "" "" Asian - South/Indian Indian 13821 Profile 2023-01-29 09:45:13 UTC 32587497 http://rdf.ncbi.nlm.nih.gov/pubmed/32587497 0 3 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8741 8741 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13821 male "" "" Asian - South/Indian Indian 13821 Profile 2023-01-29 09:45:13 UTC 32587497 http://rdf.ncbi.nlm.nih.gov/pubmed/32587497 0 3 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8742 8742 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13822 male "" "" Asian - South/Indian Indian 13822 Frontal face 2023-01-29 09:57:01 UTC 28127173 http://rdf.ncbi.nlm.nih.gov/pubmed/28127173 10 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8742 8742 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13822 male "" "" Asian - South/Indian Indian 13822 Frontal face 2023-01-29 09:57:01 UTC 28127173 http://rdf.ncbi.nlm.nih.gov/pubmed/28127173 10 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8742 8742 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13823 male "" "" Asian - South/Indian Indian 13823 Profile 2023-01-29 09:57:15 UTC 28127173 http://rdf.ncbi.nlm.nih.gov/pubmed/28127173 10 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8742 8742 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13823 male "" "" Asian - South/Indian Indian 13823 Profile 2023-01-29 09:57:15 UTC 28127173 http://rdf.ncbi.nlm.nih.gov/pubmed/28127173 10 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8742 8742 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13824 male "" "" Asian - South/Indian Indian 13824 Others 2023-01-29 09:57:35 UTC 28127173 http://rdf.ncbi.nlm.nih.gov/pubmed/28127173 10 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8742 8742 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13824 male "" "" Asian - South/Indian Indian 13824 Others 2023-01-29 09:57:35 UTC 28127173 http://rdf.ncbi.nlm.nih.gov/pubmed/28127173 10 0 "" NANDO:1200682 MONDO:0011929 OMIM:607872 https://db.gestaltmatcher.org/patients/8746 8746 CHROMOSOME 1p36 DELETION SYNDROME, DISTAL https://db.gestaltmatcher.org/patients/image_13828 female "" "" African - Sub-Saharan Mixed ancestry 13828 Frontal face 2023-01-30 09:56:24 UTC "" "" 1 9 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/82 82 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_105 female "" "" "" Brazilian 105 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 5 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/82 82 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_105 female "" "" "" Brazilian 105 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/83 83 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_106 female "" "" "" Brazilian 106 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/83 83 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_106 female "" "" "" Brazilian 106 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/84 84 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_107 female "" "" "" Brazilian 107 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/84 84 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_107 female "" "" "" Brazilian 107 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/85 85 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_108 female "" "" "" Brazilian 108 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/85 85 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_108 female "" "" "" Brazilian 108 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/86 86 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_109 male "" "" "" Brazilian 109 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/86 86 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_109 male "" "" "" Brazilian 109 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/87 87 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_110 male "" "" "" Brazilian 110 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/87 87 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_110 male "" "" "" Brazilian 110 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/8750 8750 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_13834 male "" "" Caucasian "" 13834 Frontal face 2023-02-06 08:17:09 UTC "" "" 2 6 2-3 years NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/8750 8750 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_13834 male "" "" Caucasian "" 13834 Frontal face 2023-02-06 08:17:09 UTC "" "" 2 6 2-3 years NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8717 8717 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13748 female "" "" Asian - South/Indian "" 13748 Frontal face 2023-01-24 19:07:46 UTC 22605842 http://rdf.ncbi.nlm.nih.gov/pubmed/22605842 10 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8717 8717 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13748 female "" "" Asian - South/Indian "" 13748 Frontal face 2023-01-24 19:07:46 UTC 22605842 http://rdf.ncbi.nlm.nih.gov/pubmed/22605842 10 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8717 8717 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13749 female "" "" Asian - South/Indian "" 13749 Others 2023-01-24 19:08:04 UTC 22605842 http://rdf.ncbi.nlm.nih.gov/pubmed/22605842 10 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8717 8717 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13749 female "" "" Asian - South/Indian "" 13749 Others 2023-01-24 19:08:04 UTC 22605842 http://rdf.ncbi.nlm.nih.gov/pubmed/22605842 10 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8717 8717 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13750 female "" "" Asian - South/Indian "" 13750 Profile 2023-01-24 19:08:26 UTC 22605842 http://rdf.ncbi.nlm.nih.gov/pubmed/22605842 10 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8717 8717 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13750 female "" "" Asian - South/Indian "" 13750 Profile 2023-01-24 19:08:26 UTC 22605842 http://rdf.ncbi.nlm.nih.gov/pubmed/22605842 10 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8725 8725 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13761 female "" "" Caucasian "" 13761 Frontal face 2023-01-26 19:34:32 UTC 16651211 http://rdf.ncbi.nlm.nih.gov/pubmed/16651211 5 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8725 8725 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13761 female "" "" Caucasian "" 13761 Frontal face 2023-01-26 19:34:32 UTC 16651211 http://rdf.ncbi.nlm.nih.gov/pubmed/16651211 5 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8740 8740 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13816 male "" "" Caucasian "" 13816 Frontal face 2023-01-29 09:32:00 UTC 31269504 http://rdf.ncbi.nlm.nih.gov/pubmed/31269504 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8740 8740 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13816 male "" "" Caucasian "" 13816 Frontal face 2023-01-29 09:32:00 UTC 31269504 http://rdf.ncbi.nlm.nih.gov/pubmed/31269504 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8740 8740 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13817 male "" "" Caucasian "" 13817 Profile 2023-01-29 09:32:11 UTC 31269504 http://rdf.ncbi.nlm.nih.gov/pubmed/31269504 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8740 8740 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13817 male "" "" Caucasian "" 13817 Profile 2023-01-29 09:32:11 UTC 31269504 http://rdf.ncbi.nlm.nih.gov/pubmed/31269504 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8740 8740 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13818 male "" "" Caucasian "" 13818 Funduscopy 2023-01-29 09:32:30 UTC 31269504 http://rdf.ncbi.nlm.nih.gov/pubmed/31269504 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8740 8740 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13818 male "" "" Caucasian "" 13818 Funduscopy 2023-01-29 09:32:30 UTC 31269504 http://rdf.ncbi.nlm.nih.gov/pubmed/31269504 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8740 8740 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13819 male "" "" Caucasian "" 13819 MRI 2023-01-29 09:32:45 UTC 31269504 http://rdf.ncbi.nlm.nih.gov/pubmed/31269504 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8740 8740 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13819 male "" "" Caucasian "" 13819 MRI 2023-01-29 09:32:45 UTC 31269504 http://rdf.ncbi.nlm.nih.gov/pubmed/31269504 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8340 8340 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13145 female "" "" African - North "" 13145 Frontal face 2022-11-28 16:22:29 UTC "" "" 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8340 8340 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13145 female "" "" African - North "" 13145 Frontal face 2022-11-28 16:22:29 UTC "" "" 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8340 8340 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13146 female "" "" African - North "" 13146 Profile 2023-05-19 12:03:34 UTC "" "" 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8340 8340 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13146 female "" "" African - North "" 13146 Profile 2023-05-19 12:03:34 UTC "" "" 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8340 8340 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13147 female "" "" African - North "" 13147 Others 2024-03-30 15:04:29 UTC "" "" 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8340 8340 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_13147 female "" "" African - North "" 13147 Others 2024-03-30 15:04:29 UTC "" "" 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/8361 8361 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_13175 male "" "" African - North "" 13175 Frontal face 2022-12-03 08:30:45 UTC "" "" 3 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/8751 8751 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_13835 female "" "" Caucasian "" 13835 Frontal face 2023-02-06 08:40:18 UTC "" "" 3 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/8751 8751 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_13835 female "" "" Caucasian "" 13835 Frontal face 2023-02-06 08:40:18 UTC "" "" 3 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8301 8301 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13085 male "" "" "" "" 13085 Frontal face 2022-11-22 16:37:49 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 1 3 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/8301 8301 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_13085 male "" "" "" "" 13085 Frontal face 2022-11-22 16:37:49 UTC 1770529 http://rdf.ncbi.nlm.nih.gov/pubmed/1770529 1 3 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8663 8663 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13628 male "" "" "" "" 13628 Frontal face 2022-12-31 12:15:22 UTC 18000912 http://rdf.ncbi.nlm.nih.gov/pubmed/18000912 3 4 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8682 8682 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13664 male "" "" "" "" 13664 Frontal face 2023-01-06 11:35:32 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 11 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8682 8682 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13665 male "" "" "" "" 13665 Profile 2023-01-06 11:35:44 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 11 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8682 8682 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13666 male "" "" "" "" 13666 Others 2023-01-06 11:36:04 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 11 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8682 8682 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13667 male "" "" "" "" 13667 Others 2023-01-06 11:36:21 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 11 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8683 8683 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13668 male "" "" "" "" 13668 Frontal face 2023-01-06 11:47:12 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 7 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8683 8683 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13669 male "" "" "" "" 13669 Profile 2023-01-06 11:47:20 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 7 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8683 8683 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13670 male "" "" "" "" 13670 Profile 2023-01-06 11:47:40 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 7 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8683 8683 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13671 male "" "" "" "" 13671 Limbs 2023-01-06 11:48:18 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 7 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8684 8684 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13672 male "" "" "" "" 13672 Frontal face 2023-01-06 11:59:43 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 1 9 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8684 8684 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13673 male "" "" "" "" 13673 Profile 2023-01-06 12:00:01 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 1 9 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8684 8684 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13674 male "" "" "" "" 13674 MRI 2023-01-06 12:00:17 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8685 8685 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13675 male "" "" "" "" 13675 Frontal face 2023-01-06 12:16:07 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8685 8685 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13676 male "" "" "" "" 13676 Frontal face 2023-01-06 12:16:27 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 4 6 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8685 8685 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13677 male "" "" "" "" 13677 Profile 2023-01-06 12:16:48 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 4 6 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8685 8685 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13678 male "" "" "" "" 13678 Limbs 2023-01-06 12:17:05 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8685 8685 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13679 male "" "" "" "" 13679 Limbs 2023-01-06 12:17:20 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8685 8685 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13680 male "" "" "" "" 13680 MRI 2023-01-06 12:17:37 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8685 8685 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13681 male "" "" "" "" 13681 MRI 2023-01-06 12:17:58 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 0 5 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/8685 8685 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_13682 male "" "" "" "" 13682 MRI 2023-01-06 12:18:20 UTC 22228622 http://rdf.ncbi.nlm.nih.gov/pubmed/22228622 5 9 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/933 933 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1182 female CDC42BPA http://identifiers.org/ncbigene/8476 Asian Japanese 1182 Frontal face 2022-02-25 16:35:28 UTC 29335451 http://rdf.ncbi.nlm.nih.gov/pubmed/29335451 0 1 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/8826 8826 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_13958 female STXBP1 http://identifiers.org/ncbigene/6812 Asian - East Japanese 13958 Frontal face 2023-02-20 03:38:27 UTC 29544889 http://rdf.ncbi.nlm.nih.gov/pubmed/29544889 3 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/8826 8826 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_13958 female STXBP1 http://identifiers.org/ncbigene/6812 Asian - East Japanese 13958 Frontal face 2023-02-20 03:38:27 UTC 29544889 http://rdf.ncbi.nlm.nih.gov/pubmed/29544889 3 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/8826 8826 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_13959 female STXBP1 http://identifiers.org/ncbigene/6812 Asian - East Japanese 13959 Frontal face 2023-02-20 03:39:29 UTC 29544889 http://rdf.ncbi.nlm.nih.gov/pubmed/29544889 0 11 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/8826 8826 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_13959 female STXBP1 http://identifiers.org/ncbigene/6812 Asian - East Japanese 13959 Frontal face 2023-02-20 03:39:29 UTC 29544889 http://rdf.ncbi.nlm.nih.gov/pubmed/29544889 0 11 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/9204 9204 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_14585 female ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic Colombian 14585 Frontal face 2023-05-16 16:30:44 UTC 36345475 http://rdf.ncbi.nlm.nih.gov/pubmed/36345475 7 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/9204 9204 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_14585 female ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic Colombian 14585 Frontal face 2023-05-16 16:30:44 UTC 36345475 http://rdf.ncbi.nlm.nih.gov/pubmed/36345475 7 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/9204 9204 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_14586 female ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic Colombian 14586 Profile 2023-05-16 16:30:44 UTC 36345475 http://rdf.ncbi.nlm.nih.gov/pubmed/36345475 7 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/9204 9204 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_14586 female ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic Colombian 14586 Profile 2023-05-16 16:30:44 UTC 36345475 http://rdf.ncbi.nlm.nih.gov/pubmed/36345475 7 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14275 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14275 Consent 2023-04-26 13:15:26 UTC "" "" 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14275 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14275 Consent 2023-04-26 13:15:26 UTC "" "" 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14277 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14277 Frontal face 2023-04-26 13:25:38 UTC "" "" 0 11 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14277 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14277 Frontal face 2023-04-26 13:25:38 UTC "" "" 0 11 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14278 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14278 Frontal face 2023-04-26 13:28:15 UTC "" "" 0 11 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14278 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14278 Frontal face 2023-04-26 13:28:15 UTC "" "" 0 11 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14279 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14279 Profile 2023-04-26 13:28:34 UTC "" "" 0 11 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14279 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14279 Profile 2023-04-26 13:28:34 UTC "" "" 0 11 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14280 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14280 Profile 2023-04-26 13:29:27 UTC "" "" 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/8995 8995 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14280 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan Black African 14280 Profile 2023-04-26 13:29:27 UTC "" "" 0 0 "" NANDO:1200602 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/8984 8984 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14236 male GRIN2A http://identifiers.org/ncbigene/2903 Caucasian "" 14236 Frontal face 2023-04-20 09:10:28 UTC "" "" 0 0 "" NANDO:2201429 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/8984 8984 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14236 male GRIN2A http://identifiers.org/ncbigene/2903 Caucasian "" 14236 Frontal face 2023-04-20 09:10:28 UTC "" "" 0 0 "" NANDO:1200602 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/8986 8986 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14241 male GRIN2A http://identifiers.org/ncbigene/2903 Unknown "" 14241 Frontal face 2023-04-20 09:10:42 UTC "" "" 0 0 "" NANDO:2201429 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/8986 8986 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14241 male GRIN2A http://identifiers.org/ncbigene/2903 Unknown "" 14241 Frontal face 2023-04-20 09:10:42 UTC "" "" 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/9002 9002 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14305 male NSD1 http://identifiers.org/ncbigene/64324 European, European - Northwestern "" 14305 Frontal face 2023-05-02 09:17:16 UTC "" "" 1 6 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/9002 9002 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14305 male NSD1 http://identifiers.org/ncbigene/64324 European, European - Northwestern "" 14305 Frontal face 2023-05-02 09:17:16 UTC "" "" 1 6 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/9027 9027 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14384 male NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan "" 14384 Frontal face 2023-05-11 08:42:53 UTC "" "" 1 2 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/9027 9027 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14384 male NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan "" 14384 Frontal face 2023-05-11 08:42:53 UTC "" "" 1 2 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9190 9190 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14556 male RAI1 http://identifiers.org/ncbigene/10743 European - Northwestern "" 14556 Frontal face 2023-05-13 13:08:49 UTC "" "" 12 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9190 9190 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14556 male RAI1 http://identifiers.org/ncbigene/10743 European - Northwestern "" 14556 Frontal face 2023-05-13 13:08:49 UTC "" "" 12 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9190 9190 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14557 male RAI1 http://identifiers.org/ncbigene/10743 European - Northwestern "" 14557 Consent 2023-05-13 13:26:03 UTC "" "" 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9190 9190 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14557 male RAI1 http://identifiers.org/ncbigene/10743 European - Northwestern "" 14557 Consent 2023-05-13 13:26:03 UTC "" "" 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9190 9190 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14558 male RAI1 http://identifiers.org/ncbigene/10743 European - Northwestern "" 14558 Consent 2023-05-13 13:26:42 UTC "" "" 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9190 9190 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14558 male RAI1 http://identifiers.org/ncbigene/10743 European - Northwestern "" 14558 Consent 2023-05-13 13:26:42 UTC "" "" 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9191 9191 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14559 male RAI1 http://identifiers.org/ncbigene/10743 European "" 14559 Frontal face 2023-05-13 13:29:09 UTC "" "" 23 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9191 9191 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14559 male RAI1 http://identifiers.org/ncbigene/10743 European "" 14559 Frontal face 2023-05-13 13:29:09 UTC "" "" 23 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9191 9191 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14560 male RAI1 http://identifiers.org/ncbigene/10743 European "" 14560 Consent 2023-05-14 14:00:44 UTC "" "" 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9191 9191 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14560 male RAI1 http://identifiers.org/ncbigene/10743 European "" 14560 Consent 2023-05-14 14:00:44 UTC "" "" 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9191 9191 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14561 male RAI1 http://identifiers.org/ncbigene/10743 European "" 14561 Consent 2023-05-14 14:01:33 UTC "" "" 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/9191 9191 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_14561 male RAI1 http://identifiers.org/ncbigene/10743 European "" 14561 Consent 2023-05-14 14:01:33 UTC "" "" 0 0 "" NANDO:1200602 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/9337 9337 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14905 male GRIN2A http://identifiers.org/ncbigene/2903 Unknown "" 14905 Frontal face 2023-06-23 14:01:18 UTC "" "" 0 0 "" NANDO:2201429 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/9337 9337 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14905 male GRIN2A http://identifiers.org/ncbigene/2903 Unknown "" 14905 Frontal face 2023-06-23 14:01:18 UTC "" "" 0 0 "" NANDO:1200602 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/9354 9354 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14922 male GRIN2A http://identifiers.org/ncbigene/2903 Unknown "" 14922 Frontal face 2023-06-23 15:07:37 UTC "" "" 0 0 "" NANDO:2201429 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/9354 9354 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14922 male GRIN2A http://identifiers.org/ncbigene/2903 Unknown "" 14922 Frontal face 2023-06-23 15:07:37 UTC "" "" 0 0 "" NANDO:1200602 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/9355 9355 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14923 male GRIN2A http://identifiers.org/ncbigene/2903 Unknown "" 14923 Frontal face 2023-06-23 15:11:11 UTC "" "" 0 0 "" NANDO:2201429 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/9355 9355 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14923 male GRIN2A http://identifiers.org/ncbigene/2903 Unknown "" 14923 Frontal face 2023-06-23 15:11:11 UTC "" "" 0 0 "" NANDO:2201429 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/8989 8989 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14247 female GRIN2A http://identifiers.org/ncbigene/2903 "" "" 14247 Frontal face 2023-04-20 09:11:07 UTC "" "" 0 0 "" NANDO:1200602 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/8989 8989 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14247 female GRIN2A http://identifiers.org/ncbigene/2903 "" "" 14247 Frontal face 2023-04-20 09:11:07 UTC "" "" 0 0 "" NANDO:2201429 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/8989 8989 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14248 female GRIN2A http://identifiers.org/ncbigene/2903 "" "" 14248 Frontal face 2023-04-20 09:11:11 UTC "" "" 0 0 "" NANDO:1200602 MONDO:0009509 OMIM:245570 https://db.gestaltmatcher.org/patients/8989 8989 EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT https://db.gestaltmatcher.org/patients/image_14248 female GRIN2A http://identifiers.org/ncbigene/2903 "" "" 14248 Frontal face 2023-04-20 09:11:11 UTC "" "" 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14664 male "" "" Caucasian Georgian 14664 Others 2023-10-11 08:23:29 UTC "" "" 8 0 White forlock / gray hair NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14664 male "" "" Caucasian Georgian 14664 Others 2023-10-11 08:23:29 UTC "" "" 8 0 White forlock / gray hair NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14667 male "" "" Caucasian Georgian 14667 Frontal face 2023-05-23 19:21:23 UTC "" "" 1 0 Proband and the mother NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14667 male "" "" Caucasian Georgian 14667 Frontal face 2023-05-23 19:21:23 UTC "" "" 1 0 Proband and the mother NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14669 male "" "" Caucasian Georgian 14669 Frontal face 2023-05-23 19:23:47 UTC "" "" 2 0 Proband and the mother NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14669 male "" "" Caucasian Georgian 14669 Frontal face 2023-05-23 19:23:47 UTC "" "" 2 0 Proband and the mother NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/8999 8999 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14296 female "" "" African - Sub-Saharan Black AFRICAN 14296 Frontal face 2023-04-30 20:27:54 UTC "" "" 1 4 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/8999 8999 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14296 female "" "" African - Sub-Saharan Black AFRICAN 14296 Frontal face 2023-04-30 20:27:54 UTC "" "" 1 4 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/8999 8999 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14297 female "" "" African - Sub-Saharan Black AFRICAN 14297 Profile 2023-04-30 20:28:07 UTC "" "" 1 4 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/8999 8999 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14297 female "" "" African - Sub-Saharan Black AFRICAN 14297 Profile 2023-04-30 20:28:07 UTC "" "" 1 4 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/8999 8999 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14298 female "" "" African - Sub-Saharan Black AFRICAN 14298 Profile 2023-04-30 20:28:39 UTC "" "" 1 4 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/8999 8999 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14298 female "" "" African - Sub-Saharan Black AFRICAN 14298 Profile 2023-04-30 20:28:39 UTC "" "" 1 4 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/8999 8999 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14299 female "" "" African - Sub-Saharan Black AFRICAN 14299 Consent 2023-04-30 20:29:01 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/8999 8999 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14299 female "" "" African - Sub-Saharan Black AFRICAN 14299 Consent 2023-04-30 20:29:01 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/9013 9013 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_14356 female "" "" African - Sub-Saharan Mixed ancestry 14356 Frontal face 2023-05-08 15:20:45 UTC "" "" 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14662 male "" "" Caucasian Georgian 14662 Frontal face 2023-05-23 19:16:32 UTC "" "" 6 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14662 male "" "" Caucasian Georgian 14662 Frontal face 2023-05-23 19:16:32 UTC "" "" 6 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14663 male "" "" Caucasian Georgian 14663 Frontal face 2023-05-23 19:17:45 UTC "" "" 8 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14663 male "" "" Caucasian Georgian 14663 Frontal face 2023-05-23 19:17:45 UTC "" "" 8 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14665 male "" "" Caucasian Georgian 14665 Frontal face 2023-05-23 19:20:02 UTC "" "" 9 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14665 male "" "" Caucasian Georgian 14665 Frontal face 2023-05-23 19:20:02 UTC "" "" 9 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14666 male "" "" Caucasian Georgian 14666 Frontal face 2023-05-23 19:20:26 UTC "" "" 1 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14666 male "" "" Caucasian Georgian 14666 Frontal face 2023-05-23 19:20:26 UTC "" "" 1 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14668 male "" "" Caucasian Georgian 14668 Profile 2023-05-23 19:22:10 UTC "" "" 6 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9258 9258 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14668 male "" "" Caucasian Georgian 14668 Profile 2023-05-23 19:22:10 UTC "" "" 6 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9 9 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_11 male "" "" "" African 11 Frontal face 2022-07-21 14:26:27 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9 9 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_11 male "" "" "" African 11 Frontal face 2022-07-21 14:26:27 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/88 88 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_111 female "" "" "" Brazilian 111 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/88 88 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_111 female "" "" "" Brazilian 111 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/89 89 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_112 male "" "" "" Brazilian 112 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/89 89 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_112 male "" "" "" Brazilian 112 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/90 90 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_113 male "" "" "" Brazilian 113 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 12 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/90 90 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_113 male "" "" "" Brazilian 113 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 12 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/91 91 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_114 male "" "" "" Brazilian 114 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 14 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/91 91 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_114 male "" "" "" Brazilian 114 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 14 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/92 92 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_115 male "" "" "" Brazilian 115 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 15 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/92 92 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_115 male "" "" "" Brazilian 115 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 15 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/93 93 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_116 female "" "" "" Brazilian 116 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 16 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/93 93 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_116 female "" "" "" Brazilian 116 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 16 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/94 94 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_117 female "" "" "" Brazilian 117 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/94 94 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_117 female "" "" "" Brazilian 117 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/95 95 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_118 male "" "" "" Brazilian 118 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 18 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/95 95 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_118 male "" "" "" Brazilian 118 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 18 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/95 95 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_119 male "" "" "" Brazilian 119 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 18 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/95 95 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_119 male "" "" "" Brazilian 119 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 18 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9 9 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_12 male "" "" "" African 12 Profile 2022-07-21 14:26:35 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9 9 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_12 male "" "" "" African 12 Profile 2022-07-21 14:26:35 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9019 9019 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14362 male "" "" European "" 14362 Frontal face 2023-05-10 16:20:21 UTC 20301427 http://rdf.ncbi.nlm.nih.gov/pubmed/20301427 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9019 9019 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14362 male "" "" European "" 14362 Frontal face 2023-05-10 16:20:21 UTC 20301427 http://rdf.ncbi.nlm.nih.gov/pubmed/20301427 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9020 9020 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14363 male "" "" European "" 14363 Frontal face 2023-05-10 16:25:34 UTC 20301427 http://rdf.ncbi.nlm.nih.gov/pubmed/20301427 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9020 9020 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14363 male "" "" European "" 14363 Frontal face 2023-05-10 16:25:34 UTC 20301427 http://rdf.ncbi.nlm.nih.gov/pubmed/20301427 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9021 9021 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14364 unknown "" "" European "" 14364 Frontal face 2023-05-10 16:28:35 UTC 20301427 http://rdf.ncbi.nlm.nih.gov/pubmed/20301427 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9021 9021 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14364 unknown "" "" European "" 14364 Frontal face 2023-05-10 16:28:35 UTC 20301427 http://rdf.ncbi.nlm.nih.gov/pubmed/20301427 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9024 9024 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14367 male "" "" European "" 14367 Frontal face 2023-05-10 16:39:15 UTC 22754603 http://rdf.ncbi.nlm.nih.gov/pubmed/22754603 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9024 9024 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14367 male "" "" European "" 14367 Frontal face 2023-05-10 16:39:15 UTC 22754603 http://rdf.ncbi.nlm.nih.gov/pubmed/22754603 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9031 9031 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14387 male "" "" European "" 14387 Frontal face 2023-05-11 14:57:06 UTC 22754603 http://rdf.ncbi.nlm.nih.gov/pubmed/22754603 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9031 9031 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14387 male "" "" European "" 14387 Frontal face 2023-05-11 14:57:06 UTC 22754603 http://rdf.ncbi.nlm.nih.gov/pubmed/22754603 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9037 9037 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14393 male "" "" Asian "" 14393 Frontal face 2023-05-11 15:11:47 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9037 9037 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14393 male "" "" Asian "" 14393 Frontal face 2023-05-11 15:11:47 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9038 9038 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14394 female "" "" African "" 14394 Frontal face 2023-05-11 15:13:29 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9038 9038 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14394 female "" "" African "" 14394 Frontal face 2023-05-11 15:13:29 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9039 9039 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14395 female "" "" African "" 14395 Frontal face 2023-05-11 15:15:11 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9039 9039 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14395 female "" "" African "" 14395 Frontal face 2023-05-11 15:15:11 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9041 9041 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14397 female "" "" Unknown "" 14397 Frontal face 2023-05-11 15:20:55 UTC 10636739 http://rdf.ncbi.nlm.nih.gov/pubmed/10636739 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9041 9041 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14397 female "" "" Unknown "" 14397 Frontal face 2023-05-11 15:20:55 UTC 10636739 http://rdf.ncbi.nlm.nih.gov/pubmed/10636739 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9042 9042 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14398 female "" "" European "" 14398 Frontal face 2023-05-11 15:22:29 UTC 17625998 http://rdf.ncbi.nlm.nih.gov/pubmed/17625998 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9042 9042 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14398 female "" "" European "" 14398 Frontal face 2023-05-11 15:22:29 UTC 17625998 http://rdf.ncbi.nlm.nih.gov/pubmed/17625998 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9043 9043 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14399 male "" "" European "" 14399 Frontal face 2023-05-11 15:24:27 UTC 3601523 http://rdf.ncbi.nlm.nih.gov/pubmed/3601523 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9043 9043 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14399 male "" "" European "" 14399 Frontal face 2023-05-11 15:24:27 UTC 3601523 http://rdf.ncbi.nlm.nih.gov/pubmed/3601523 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9044 9044 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14400 unknown "" "" European "" 14400 Frontal face 2023-05-11 15:26:30 UTC 7545578 http://rdf.ncbi.nlm.nih.gov/pubmed/7545578 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9044 9044 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14400 unknown "" "" European "" 14400 Frontal face 2023-05-11 15:26:30 UTC 7545578 http://rdf.ncbi.nlm.nih.gov/pubmed/7545578 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9045 9045 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14401 male "" "" European "" 14401 Frontal face 2023-05-11 15:30:03 UTC 16473313 http://rdf.ncbi.nlm.nih.gov/pubmed/16473313 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9045 9045 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14401 male "" "" European "" 14401 Frontal face 2023-05-11 15:30:03 UTC 16473313 http://rdf.ncbi.nlm.nih.gov/pubmed/16473313 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9046 9046 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14402 male "" "" European "" 14402 Frontal face 2023-05-11 15:31:34 UTC 3843262 http://rdf.ncbi.nlm.nih.gov/pubmed/3843262 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9046 9046 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14402 male "" "" European "" 14402 Frontal face 2023-05-11 15:31:34 UTC 3843262 http://rdf.ncbi.nlm.nih.gov/pubmed/3843262 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9047 9047 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14403 male "" "" European "" 14403 Frontal face 2023-05-11 15:34:06 UTC 107508 http://rdf.ncbi.nlm.nih.gov/pubmed/107508 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9047 9047 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14403 male "" "" European "" 14403 Frontal face 2023-05-11 15:34:06 UTC 107508 http://rdf.ncbi.nlm.nih.gov/pubmed/107508 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9105 9105 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14461 female "" "" Asian "" 14461 Frontal face 2023-05-12 12:17:22 UTC 25901183 http://rdf.ncbi.nlm.nih.gov/pubmed/25901183 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9105 9105 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14461 female "" "" Asian "" 14461 Frontal face 2023-05-12 12:17:22 UTC 25901183 http://rdf.ncbi.nlm.nih.gov/pubmed/25901183 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9114 9114 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14470 male "" "" European "" 14470 Frontal face 2024-01-04 17:09:36 UTC 23622177 http://rdf.ncbi.nlm.nih.gov/pubmed/23622177 20 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9114 9114 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14470 male "" "" European "" 14470 Frontal face 2024-01-04 17:09:36 UTC 23622177 http://rdf.ncbi.nlm.nih.gov/pubmed/23622177 20 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9117 9117 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14473 female "" "" Asian "" 14473 Frontal face 2023-05-12 12:34:52 UTC 31955925 http://rdf.ncbi.nlm.nih.gov/pubmed/31955925 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9117 9117 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14473 female "" "" Asian "" 14473 Frontal face 2023-05-12 12:34:52 UTC 31955925 http://rdf.ncbi.nlm.nih.gov/pubmed/31955925 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9119 9119 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14475 female "" "" European "" 14475 Frontal face 2023-05-12 12:38:18 UTC 27615419 http://rdf.ncbi.nlm.nih.gov/pubmed/27615419 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9119 9119 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14475 female "" "" European "" 14475 Frontal face 2023-05-12 12:38:18 UTC 27615419 http://rdf.ncbi.nlm.nih.gov/pubmed/27615419 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/8900 8900 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14136 unknown "" "" European "" 14136 Frontal face 2023-03-31 10:52:34 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/8900 8900 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14136 unknown "" "" European "" 14136 Frontal face 2023-03-31 10:52:34 UTC "" "" 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8941 8941 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_14181 unknown "" "" European "" 14181 Frontal face 2023-04-03 12:22:25 UTC "" "" 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/8941 8941 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_14181 unknown "" "" European "" 14181 Frontal face 2023-04-03 12:22:25 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/9012 9012 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_14355 male "" "" African - Sub-Saharan "" 14355 Frontal face 2023-05-08 15:17:53 UTC "" "" 1 4 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9018 9018 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14361 male "" "" European "" 14361 Frontal face 2023-05-10 16:17:27 UTC "" "" 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9018 9018 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14361 male "" "" European "" 14361 Frontal face 2023-05-10 16:17:27 UTC "" "" 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9032 9032 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14388 male "" "" Asian "" 14388 Frontal face 2023-05-11 15:00:47 UTC "" "" 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9032 9032 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14388 male "" "" Asian "" 14388 Frontal face 2023-05-11 15:00:47 UTC "" "" 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9033 9033 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14389 female "" "" Unknown "" 14389 Frontal face 2023-05-11 15:02:30 UTC "" "" 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9033 9033 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14389 female "" "" Unknown "" 14389 Frontal face 2023-05-11 15:02:30 UTC "" "" 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9050 9050 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14405 male "" "" European "" 14405 Frontal face 2023-05-11 15:36:54 UTC "" "" 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/9050 9050 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14405 male "" "" European "" 14405 Frontal face 2023-05-11 15:36:54 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9120 9120 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14476 unknown "" "" African "" 14476 Frontal face 2023-05-12 12:39:32 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/9120 9120 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_14476 unknown "" "" African "" 14476 Frontal face 2023-05-12 12:39:32 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/9222 9222 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_14622 male "" "" African - Sub-Saharan "" 14622 Frontal face 2023-05-18 08:05:37 UTC "" "" 1 5 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/9223 9223 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_14623 male "" "" African - Sub-Saharan "" 14623 Frontal face 2023-05-18 08:06:38 UTC "" "" 5 0 "" NANDO:1200682 MONDO:0011929 OMIM:607872 https://db.gestaltmatcher.org/patients/9386 9386 CHROMOSOME 1p36 DELETION SYNDROME, DISTAL https://db.gestaltmatcher.org/patients/image_14994 male "" "" Other "" 14994 Frontal face 2023-07-12 22:04:19 UTC "" "" 0 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9709 9709 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15688 female MAN2B1 http://identifiers.org/ncbigene/4125 Caucasian Turkish 15688 Frontal face 2023-10-03 07:57:48 UTC 12718372 http://rdf.ncbi.nlm.nih.gov/pubmed/12718372 3 3 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9726 9726 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15738 male MAN2B1 http://identifiers.org/ncbigene/4125 American - Latin/Hispanic Honduras 15738 Frontal face 2023-10-04 15:33:36 UTC 17979865 http://rdf.ncbi.nlm.nih.gov/pubmed/17979865 6 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9726 9726 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15739 male MAN2B1 http://identifiers.org/ncbigene/4125 American - Latin/Hispanic Honduras 15739 Profile 2023-10-04 15:33:27 UTC 17979865 http://rdf.ncbi.nlm.nih.gov/pubmed/17979865 6 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9808 9808 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16013 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian, European Romania 16013 Frontal face 2023-11-07 12:27:44 UTC 32481733 http://rdf.ncbi.nlm.nih.gov/pubmed/32481733 5 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9809 9809 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16014 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian Canadian 16014 Profile 2023-11-07 12:41:51 UTC 28125296 http://rdf.ncbi.nlm.nih.gov/pubmed/28125296 4 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9721 9721 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15727 male MAN2B1 http://identifiers.org/ncbigene/4125 Arab Saudi 15727 Frontal face 2023-10-04 05:42:12 UTC "" "" 0 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9721 9721 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15728 male MAN2B1 http://identifiers.org/ncbigene/4125 Arab Saudi 15728 Frontal face 2023-10-04 05:42:35 UTC "" "" 0 3 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9721 9721 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15729 male MAN2B1 http://identifiers.org/ncbigene/4125 Arab Saudi 15729 Profile 2023-10-04 05:42:48 UTC "" "" 0 6 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9721 9721 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15730 male MAN2B1 http://identifiers.org/ncbigene/4125 Arab Saudi 15730 Frontal face 2023-10-04 05:43:16 UTC "" "" 0 10 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9721 9721 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15731 male MAN2B1 http://identifiers.org/ncbigene/4125 Arab Saudi 15731 Frontal face 2023-10-04 05:43:39 UTC "" "" 1 6 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9721 9721 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15732 male MAN2B1 http://identifiers.org/ncbigene/4125 Arab Saudi 15732 Others 2023-10-04 05:43:52 UTC "" "" 0 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/983 983 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1252 female CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1252 Frontal face 2022-02-25 16:37:21 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 2 6 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/983 983 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1253 female CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1253 Frontal face 2022-02-25 16:37:24 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 15 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/983 983 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1254 female CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1254 Profile 2021-04-14 12:11:41 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 15 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/986 986 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1258 male CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1258 Frontal face 2022-02-25 16:37:31 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 15 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/988 988 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1260 male CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1260 Frontal face 2022-02-25 16:37:35 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 2 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/988 988 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1261 male CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1261 Frontal face 2022-02-25 16:37:36 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 4 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/989 989 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1262 male CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1262 Frontal face 2022-02-25 16:37:38 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 2 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/989 989 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1263 male CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1263 Frontal face 2022-02-25 16:37:39 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 6 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/990 990 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1264 male CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1264 Frontal face 2022-02-25 16:37:42 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 13 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/990 990 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1265 male CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1265 Frontal face 2022-02-25 16:37:43 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 32 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9708 9708 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15684 female MAN2B1 http://identifiers.org/ncbigene/4125 Asian - South/Indian "" 15684 Frontal face 2023-10-03 07:39:55 UTC 36160623 http://rdf.ncbi.nlm.nih.gov/pubmed/36160623 7 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9708 9708 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15685 female MAN2B1 http://identifiers.org/ncbigene/4125 Asian - South/Indian "" 15685 Limbs 2023-10-03 07:40:04 UTC 36160623 http://rdf.ncbi.nlm.nih.gov/pubmed/36160623 7 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9708 9708 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15686 female MAN2B1 http://identifiers.org/ncbigene/4125 Asian - South/Indian "" 15686 Hand X-ray 2023-10-03 07:40:22 UTC 36160623 http://rdf.ncbi.nlm.nih.gov/pubmed/36160623 7 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9708 9708 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15687 female MAN2B1 http://identifiers.org/ncbigene/4125 Asian - South/Indian "" 15687 MRI 2023-10-03 07:40:40 UTC 36160623 http://rdf.ncbi.nlm.nih.gov/pubmed/36160623 7 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9711 9711 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15691 female MAN2B1 http://identifiers.org/ncbigene/4125 Asian - South/Indian "" 15691 Frontal face 2023-10-03 08:26:06 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 7 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9711 9711 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15692 female MAN2B1 http://identifiers.org/ncbigene/4125 Asian - South/Indian "" 15692 Others 2023-10-03 08:27:27 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 7 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9711 9711 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15693 female MAN2B1 http://identifiers.org/ncbigene/4125 Asian - South/Indian "" 15693 MRI 2023-10-03 08:26:26 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 7 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9711 9711 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15694 female MAN2B1 http://identifiers.org/ncbigene/4125 Asian - South/Indian "" 15694 Others 2023-10-03 08:26:41 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 7 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9711 9711 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15695 female MAN2B1 http://identifiers.org/ncbigene/4125 Asian - South/Indian "" 15695 Limbs 2023-10-03 08:26:54 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 7 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9714 9714 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15698 male MAN2B1 http://identifiers.org/ncbigene/4125 Caucasian "" 15698 Frontal face 2023-10-03 11:20:37 UTC 18651971 http://rdf.ncbi.nlm.nih.gov/pubmed/18651971 1 6 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9714 9714 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15699 male MAN2B1 http://identifiers.org/ncbigene/4125 Caucasian "" 15699 Frontal face 2023-10-03 11:20:47 UTC 18651971 http://rdf.ncbi.nlm.nih.gov/pubmed/18651971 8 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9715 9715 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15700 male MAN2B1 http://identifiers.org/ncbigene/4125 Caucasian "" 15700 Frontal face 2023-10-03 11:23:51 UTC 18651971 http://rdf.ncbi.nlm.nih.gov/pubmed/18651971 1 6 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9715 9715 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15701 male MAN2B1 http://identifiers.org/ncbigene/4125 Caucasian "" 15701 Frontal face 2023-10-03 11:23:55 UTC 18651971 http://rdf.ncbi.nlm.nih.gov/pubmed/18651971 8 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9716 9716 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15702 male MAN2B1 http://identifiers.org/ncbigene/4125 Caucasian "" 15702 Frontal face 2023-10-03 11:27:09 UTC 18651971 http://rdf.ncbi.nlm.nih.gov/pubmed/18651971 28 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9728 9728 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15741 male MAN2B1 http://identifiers.org/ncbigene/4125 American - Latin/Hispanic "" 15741 Frontal face 2023-10-05 06:51:04 UTC 17979865 http://rdf.ncbi.nlm.nih.gov/pubmed/17979865 10 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9795 9795 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15973 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15973 Frontal face 2023-11-04 23:05:09 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9795 9795 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15974 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15974 Profile 2023-11-04 23:05:14 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9795 9795 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15975 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15975 Limbs 2023-11-04 23:05:27 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9795 9795 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15976 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15976 Limbs 2023-11-04 23:05:46 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9795 9795 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15977 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15977 MRI 2023-11-04 23:06:14 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9795 9795 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15978 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15978 MRI 2023-11-04 23:06:28 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9796 9796 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15979 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15979 Frontal face 2023-11-05 10:06:35 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9796 9796 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15980 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15980 Profile 2023-11-05 10:06:43 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9796 9796 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15981 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15981 Limbs 2023-11-05 10:06:57 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9796 9796 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15982 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 15982 MRI 2023-11-05 10:07:12 UTC 23165966 http://rdf.ncbi.nlm.nih.gov/pubmed/23165966 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9803 9803 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16000 female TCF4 http://identifiers.org/ncbigene/6925 Asian "" 16000 Frontal face 2023-11-05 16:42:46 UTC 29604340 http://rdf.ncbi.nlm.nih.gov/pubmed/29604340 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9807 9807 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16012 male TCF4 http://identifiers.org/ncbigene/6925 African - North, Asian - West/Middle Eastern "" 16012 Frontal face 2023-11-07 12:05:13 UTC 23248353 http://rdf.ncbi.nlm.nih.gov/pubmed/23248353 2 5 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9811 9811 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16017 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 16017 Frontal face 2023-11-07 13:05:39 UTC 20813211 http://rdf.ncbi.nlm.nih.gov/pubmed/20813211 8 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9811 9811 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16018 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 16018 Profile 2023-11-07 13:05:42 UTC 20813211 http://rdf.ncbi.nlm.nih.gov/pubmed/20813211 8 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9551 9551 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15192 male IDS http://identifiers.org/ncbigene/3423 African - Sub-Saharan "" 15192 Frontal face 2023-07-31 15:08:03 UTC "" "" 14 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9551 9551 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15192 male IDS http://identifiers.org/ncbigene/3423 African - Sub-Saharan "" 15192 Frontal face 2023-07-31 15:08:03 UTC "" "" 14 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/9660 9660 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_15518 male MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 15518 Frontal face 2023-09-15 01:27:50 UTC "" "" 8 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/9835 9835 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_16047 male ATRX http://identifiers.org/ncbigene/546 European - Eastern "" 16047 Frontal face 2023-12-05 07:15:57 UTC "" "" 24 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/9835 9835 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_16047 male ATRX http://identifiers.org/ncbigene/546 European - Eastern "" 16047 Frontal face 2023-12-05 07:15:57 UTC "" "" 24 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/9835 9835 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_16048 male ATRX http://identifiers.org/ncbigene/546 European - Eastern "" 16048 Profile 2023-12-05 07:16:14 UTC "" "" 24 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/9835 9835 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_16048 male ATRX http://identifiers.org/ncbigene/546 European - Eastern "" 16048 Profile 2023-12-05 07:16:14 UTC "" "" 24 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/9744 9744 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_15763 male FLNB http://identifiers.org/ncbigene/2317 "" "" 15763 Frontal face 2023-10-06 09:52:24 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/9745 9745 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_15764 female FLNB http://identifiers.org/ncbigene/2317 "" "" 15764 Profile 2023-10-06 09:54:01 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9797 9797 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15983 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 15983 Frontal face 2023-11-05 15:06:23 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 5 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9797 9797 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15984 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 15984 Profile 2023-11-05 15:06:15 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 5 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9798 9798 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15985 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 15985 Frontal face 2023-11-05 15:09:49 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 2 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9798 9798 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15986 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 15986 Profile 2023-11-05 15:09:59 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 2 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9798 9798 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15987 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 15987 Frontal face 2023-11-05 15:10:23 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 11 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9798 9798 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15988 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 15988 Profile 2023-11-05 15:10:33 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 11 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9799 9799 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15989 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 15989 Frontal face 2023-11-05 15:13:45 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 7 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9799 9799 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15990 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 15990 Profile 2023-11-05 15:14:02 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 7 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9800 9800 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15991 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 15991 Frontal face 2023-11-05 15:16:26 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 4 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9800 9800 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15992 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 15992 Profile 2023-11-05 15:16:34 UTC 17436254 http://rdf.ncbi.nlm.nih.gov/pubmed/17436254 4 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9804 9804 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16001 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 16001 Frontal face 2023-11-05 20:04:03 UTC 23528641 http://rdf.ncbi.nlm.nih.gov/pubmed/23528641 5 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9804 9804 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16002 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 16002 Profile 2023-11-05 20:04:12 UTC 23528641 http://rdf.ncbi.nlm.nih.gov/pubmed/23528641 5 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9804 9804 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16003 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 16003 Frontal face 2023-11-05 20:04:53 UTC 23528641 http://rdf.ncbi.nlm.nih.gov/pubmed/23528641 10 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9804 9804 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16004 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 16004 Profile 2023-11-05 20:05:10 UTC 23528641 http://rdf.ncbi.nlm.nih.gov/pubmed/23528641 10 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9804 9804 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16005 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 16005 Frontal face 2023-11-05 20:05:37 UTC 23528641 http://rdf.ncbi.nlm.nih.gov/pubmed/23528641 14 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9804 9804 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16006 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 16006 Profile 2023-11-05 20:06:11 UTC 23528641 http://rdf.ncbi.nlm.nih.gov/pubmed/23528641 14 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9806 9806 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16010 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 16010 Frontal face 2023-11-07 11:42:09 UTC 20205897 http://rdf.ncbi.nlm.nih.gov/pubmed/20205897 3 5 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9806 9806 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_16011 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 16011 Frontal face 2023-11-07 11:42:30 UTC 20205897 http://rdf.ncbi.nlm.nih.gov/pubmed/20205897 3 5 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9710 9710 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15689 male "" "" African South Africa 15689 Frontal face 2023-10-03 08:15:52 UTC 1509325 http://rdf.ncbi.nlm.nih.gov/pubmed/1509325 4 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9710 9710 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15690 male "" "" African South Africa 15690 Others 2023-10-03 08:16:06 UTC 1509325 http://rdf.ncbi.nlm.nih.gov/pubmed/1509325 0 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9717 9717 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15703 male "" "" Caucasian German 15703 Frontal face 2023-10-03 11:55:52 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 9 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9717 9717 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15704 male "" "" Caucasian German 15704 Hand X-ray 2023-10-03 11:55:56 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 9 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9717 9717 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15705 male "" "" Caucasian German 15705 Hand X-ray 2023-10-03 11:56:23 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 1 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9717 9717 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15706 male "" "" Caucasian German 15706 Others 2023-10-03 11:57:12 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 9 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9717 9717 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15707 male "" "" Caucasian German 15707 Others 2023-10-03 11:57:39 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 4 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9717 9717 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15708 male "" "" Caucasian German 15708 Others 2023-10-03 11:58:01 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 1 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9718 9718 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15709 female "" "" Caucasian German 15709 Frontal face 2023-10-03 12:03:59 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 6 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9719 9719 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15713 female "" "" Caucasian German 15713 Profile 2023-10-03 12:14:52 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 12 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9719 9719 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15714 female "" "" Caucasian German 15714 Hand X-ray 2023-10-03 12:15:24 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 2 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9719 9719 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15715 female "" "" Caucasian German 15715 Hand X-ray 2023-10-03 12:15:39 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 12 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9719 9719 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15717 female "" "" Caucasian German 15717 Others 2023-10-03 12:20:51 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 12 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9719 9719 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15718 female "" "" Caucasian German 15718 Others 2023-10-03 12:21:46 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 1 4 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9718 9718 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15719 female "" "" Caucasian German 15719 Others 2023-10-03 12:23:34 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 0 10 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9718 9718 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15720 female "" "" Caucasian German 15720 Others 2023-10-03 12:24:33 UTC 1265271 http://rdf.ncbi.nlm.nih.gov/pubmed/1265271 0 10 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9720 9720 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15721 male "" "" Caucasian American 15721 Frontal face 2023-10-03 12:40:24 UTC 5584 http://rdf.ncbi.nlm.nih.gov/pubmed/5584 0 3 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9720 9720 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15722 male "" "" Caucasian American 15722 Frontal face 2023-10-03 12:40:37 UTC 5584 http://rdf.ncbi.nlm.nih.gov/pubmed/5584 0 6 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9720 9720 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15723 male "" "" Caucasian American 15723 Frontal face 2023-10-03 12:40:51 UTC 5584 http://rdf.ncbi.nlm.nih.gov/pubmed/5584 0 9 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9720 9720 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15724 male "" "" Caucasian American 15724 Others 2023-10-03 12:41:47 UTC 5584 http://rdf.ncbi.nlm.nih.gov/pubmed/5584 1 1 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9720 9720 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15725 male "" "" Caucasian American 15725 Frontal face 2023-10-03 12:41:28 UTC 5584 http://rdf.ncbi.nlm.nih.gov/pubmed/5584 2 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9720 9720 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15726 male "" "" Caucasian American 15726 Others 2023-10-03 12:41:39 UTC 5584 http://rdf.ncbi.nlm.nih.gov/pubmed/5584 3 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9712 9712 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15696 female "" "" Caucasian Turkish 15696 Frontal face 2023-10-03 09:18:21 UTC "" "" 6 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9713 9713 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15697 male "" "" Caucasian Turkish 15697 Frontal face 2023-10-03 09:23:01 UTC "" "" 4 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9722 9722 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15733 female "" "" Caucasian German 15733 Frontal face 2023-10-04 06:00:00 UTC "" "" 12 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9723 9723 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15734 male "" "" Caucasian Spanish 15734 Frontal face 2023-10-04 06:16:04 UTC "" "" 4 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9723 9723 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15735 male "" "" Caucasian Spanish 15735 Profile 2023-10-04 06:16:16 UTC "" "" 4 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9723 9723 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15736 male "" "" Caucasian Spanish 15736 Others 2023-10-04 06:16:34 UTC "" "" 4 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9729 9729 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15742 female "" "" Caucasian Russian 15742 Frontal face 2023-10-05 07:41:54 UTC "" "" 3 6 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9729 9729 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15743 female "" "" Caucasian Russian 15743 Frontal face 2023-10-05 07:42:16 UTC "" "" 11 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/96 96 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_120 female "" "" "" Costa Rican 120 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/96 96 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_120 female "" "" "" Costa Rican 120 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/96 96 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_121 female "" "" "" Costa Rican 121 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/96 96 WILLIAMS-BEUREN 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http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 14 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/97 97 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_123 female "" "" "" Costa Rican 123 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 14 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/98 98 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_124 female "" "" "" Costa Rican 124 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/98 98 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_124 female "" "" "" Costa Rican 124 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/98 98 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_125 female "" "" "" Costa Rican 125 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/98 98 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_125 female "" "" "" Costa Rican 125 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/99 99 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_126 female "" "" "" Paraguayan 126 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 3 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/99 99 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_126 female "" "" "" Paraguayan 126 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 3 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/99 99 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_127 female "" "" "" Paraguayan 127 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 3 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/99 99 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_127 female "" "" "" Paraguayan 127 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 3 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9707 9707 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15682 female "" "" Caucasian "" 15682 Frontal face 2023-10-03 06:48:53 UTC 995502 http://rdf.ncbi.nlm.nih.gov/pubmed/995502 3 6 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9707 9707 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15683 female "" "" Caucasian "" 15683 Profile 2023-10-03 06:48:58 UTC 995502 http://rdf.ncbi.nlm.nih.gov/pubmed/995502 3 6 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9732 9732 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15748 female "" "" Caucasian "" 15748 Frontal face 2023-10-06 06:39:26 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 1 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9733 9733 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15749 male "" "" Unknown "" 15749 Frontal face 2023-10-06 06:41:26 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 3 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9733 9733 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15749 male "" "" Unknown "" 15749 Frontal face 2023-10-06 06:41:26 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 3 0 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9734 9734 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15750 male "" "" Unknown "" 15750 Profile 2023-10-06 06:44:41 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 2 6 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9734 9734 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15750 male "" "" Unknown "" 15750 Profile 2023-10-06 06:44:41 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 2 6 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9734 9734 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15751 male "" "" Unknown "" 15751 Frontal face 2023-10-06 06:45:09 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 5 0 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9734 9734 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15751 male "" "" Unknown "" 15751 Frontal face 2023-10-06 06:45:09 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 5 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9735 9735 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15752 male "" "" Unknown "" 15752 Frontal face 2023-10-06 06:47:43 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 4 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9735 9735 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15752 male "" "" Unknown "" 15752 Frontal face 2023-10-06 06:47:43 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 4 0 "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9736 9736 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15753 male "" "" Unknown "" 15753 Frontal face 2023-10-06 06:49:47 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 2 0 "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9736 9736 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15753 male "" "" Unknown "" 15753 Frontal face 2023-10-06 06:49:47 UTC 30442162 http://rdf.ncbi.nlm.nih.gov/pubmed/30442162 2 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9737 9737 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15754 female "" "" Unknown "" 15754 Frontal face 2023-10-06 07:03:30 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 3 1 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9738 9738 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15755 female "" "" Unknown "" 15755 Frontal face 2023-10-06 07:06:01 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 2 3 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9738 9738 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15756 female "" "" Unknown "" 15756 Frontal face 2023-10-06 07:06:24 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 3 1 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9739 9739 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15757 male "" "" Unknown "" 15757 Frontal face 2023-10-06 07:08:07 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 5 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9739 9739 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15757 male "" "" Unknown "" 15757 Frontal face 2023-10-06 07:08:07 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 5 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9740 9740 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15758 male "" "" Unknown "" 15758 Frontal face 2023-10-06 07:09:31 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 15 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9740 9740 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15758 male "" "" Unknown "" 15758 Frontal face 2023-10-06 07:09:31 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 15 0 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9741 9741 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15759 female "" "" Unknown "" 15759 Frontal face 2023-10-06 07:11:05 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 6 0 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9741 9741 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15759 female "" "" Unknown "" 15759 Frontal face 2023-10-06 07:11:05 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 6 0 "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9742 9742 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15760 female "" "" Unknown "" 15760 Frontal face 2023-10-06 07:13:28 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 10 0 "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9742 9742 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15760 female "" "" Unknown "" 15760 Frontal face 2023-10-06 07:13:28 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 10 0 "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9742 9742 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15761 female "" "" Unknown "" 15761 Profile 2023-10-06 07:13:40 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 10 0 "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9742 9742 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15761 female "" "" Unknown "" 15761 Profile 2023-10-06 07:13:40 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 10 0 "" NANDO:2201196 MONDO:0009260 OMIM:230500 https://db.gestaltmatcher.org/patients/9743 9743 GM1-GANGLIOSIDOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_15762 unknown "" "" Unknown "" 15762 Frontal face 2023-10-06 07:15:22 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 0 0 "" NANDO:1200067 MONDO:0009260 OMIM:230500 https://db.gestaltmatcher.org/patients/9743 9743 GM1-GANGLIOSIDOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_15762 unknown "" "" Unknown "" 15762 Frontal face 2023-10-06 07:15:22 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 0 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9706 9706 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15679 male "" "" Arab "" 15679 Frontal face 2023-10-03 06:32:45 UTC "" "" 11 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9706 9706 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15680 male "" "" Arab "" 15680 Profile 2023-10-03 06:32:55 UTC "" "" 11 0 "" NANDO:1200126 MONDO:0009561 OMIM:248500 https://db.gestaltmatcher.org/patients/9705 9705 MANNOSIDOSIS, ALPHA B, LYSOSOMAL https://db.gestaltmatcher.org/patients/image_15681 female "" "" Arab "" 15681 Frontal face 2023-10-03 06:33:59 UTC "" "" 5 0 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9748 9748 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15784 female "" "" Caucasian "" 15784 Frontal face 2023-10-09 08:54:47 UTC "" "" 9 9 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9748 9748 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15784 female "" "" Caucasian "" 15784 Frontal face 2023-10-09 08:54:47 UTC "" "" 9 9 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9748 9748 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15790 female "" "" Caucasian "" 15790 Frontal face 2023-10-09 08:54:55 UTC "" "" 9 9 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9748 9748 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15790 female "" "" Caucasian "" 15790 Frontal face 2023-10-09 08:54:55 UTC "" "" 9 9 "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9749 9749 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15791 female "" "" Caucasian "" 15791 Frontal face 2023-10-09 08:59:39 UTC "" "" 22 0 "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9749 9749 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15791 female "" "" Caucasian "" 15791 Frontal face 2023-10-09 08:59:39 UTC "" "" 22 0 "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9749 9749 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15792 female "" "" Caucasian "" 15792 Frontal face 2023-10-09 09:00:16 UTC "" "" 22 0 "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9749 9749 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15792 female "" "" Caucasian "" 15792 Frontal face 2023-10-09 09:00:16 UTC "" "" 22 0 "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9749 9749 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15793 female "" "" Caucasian "" 15793 Frontal face 2023-10-09 09:00:56 UTC "" "" 22 0 "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9749 9749 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15793 female "" "" Caucasian "" 15793 Frontal face 2023-10-09 09:00:56 UTC "" "" 22 0 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9751 9751 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15794 female "" "" Caucasian "" 15794 Frontal face 2023-10-09 09:21:48 UTC "" "" 9 7 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9751 9751 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15794 female "" "" Caucasian "" 15794 Frontal face 2023-10-09 09:21:48 UTC "" "" 9 7 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9750 9750 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15796 male "" "" Caucasian "" 15796 Frontal face 2023-10-09 09:25:43 UTC "" "" 11 8 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9750 9750 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15796 male "" "" Caucasian "" 15796 Frontal face 2023-10-09 09:25:43 UTC "" "" 11 8 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9750 9750 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15798 male "" "" Caucasian "" 15798 Frontal face 2023-10-09 09:27:17 UTC "" "" 11 8 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9750 9750 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15798 male "" "" Caucasian "" 15798 Frontal face 2023-10-09 09:27:17 UTC "" "" 11 8 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9750 9750 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15799 male "" "" Caucasian "" 15799 Frontal face 2023-10-09 09:29:20 UTC "" "" 11 8 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9750 9750 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15799 male "" "" Caucasian "" 15799 Frontal face 2023-10-09 09:29:20 UTC "" "" 11 8 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9761 9761 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15850 male "" "" Caucasian "" 15850 Frontal face 2023-10-09 15:38:35 UTC "" "" 0 0 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9761 9761 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15850 male "" "" Caucasian "" 15850 Frontal face 2023-10-09 15:38:35 UTC "" "" 0 0 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9761 9761 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15851 male "" "" Caucasian "" 15851 Frontal face 2023-10-09 15:38:56 UTC "" "" 11 0 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9761 9761 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15851 male "" "" Caucasian "" 15851 Frontal face 2023-10-09 15:38:56 UTC "" "" 11 0 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9761 9761 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15852 male "" "" Caucasian "" 15852 Frontal face 2023-10-09 15:39:10 UTC "" "" 11 0 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/9761 9761 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_15852 male "" "" Caucasian "" 15852 Frontal face 2023-10-09 15:39:10 UTC "" "" 11 0 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9762 9762 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15853 male "" "" Caucasian "" 15853 Frontal face 2023-10-09 15:41:14 UTC "" "" 5 7 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9762 9762 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15853 male "" "" Caucasian "" 15853 Frontal face 2023-10-09 15:41:14 UTC "" "" 5 7 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9762 9762 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15854 male "" "" Caucasian "" 15854 Frontal face 2023-10-09 15:41:29 UTC "" "" 5 7 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9762 9762 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15854 male "" "" Caucasian "" 15854 Frontal face 2023-10-09 15:41:29 UTC "" "" 5 7 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9763 9763 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15855 female "" "" Caucasian "" 15855 Frontal face 2023-10-09 15:43:23 UTC "" "" 4 3 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9763 9763 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15855 female "" "" Caucasian "" 15855 Frontal face 2023-10-09 15:43:23 UTC "" "" 4 3 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9763 9763 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15856 female "" "" Caucasian "" 15856 Frontal face 2023-10-09 15:43:48 UTC "" "" 4 3 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9763 9763 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15856 female "" "" Caucasian "" 15856 Frontal face 2023-10-09 15:43:48 UTC "" "" 4 3 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9763 9763 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15857 female "" "" Caucasian "" 15857 Frontal face 2023-10-09 15:44:08 UTC "" "" 4 3 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9763 9763 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15857 female "" "" Caucasian "" 15857 Frontal face 2023-10-09 15:44:08 UTC "" "" 4 3 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9764 9764 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15858 female "" "" Caucasian "" 15858 Frontal face 2023-10-09 15:45:52 UTC "" "" 16 11 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9764 9764 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15858 female "" "" Caucasian "" 15858 Frontal face 2023-10-09 15:45:52 UTC "" "" 16 11 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9765 9765 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15859 male "" "" Caucasian "" 15859 Frontal face 2023-10-09 15:48:12 UTC "" "" 37 5 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9765 9765 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15859 male "" "" Caucasian "" 15859 Frontal face 2023-10-09 15:48:12 UTC "" "" 37 5 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15861 female "" "" Caucasian "" 15861 Frontal face 2023-10-09 15:59:06 UTC "" "" 39 7 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15862 female "" "" Caucasian "" 15862 Frontal face 2023-10-09 16:02:27 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15863 female "" "" Caucasian "" 15863 Frontal face 2023-10-09 16:02:40 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15864 female "" "" Caucasian "" 15864 Frontal face 2023-10-09 16:03:20 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15865 female "" "" Caucasian "" 15865 Frontal face 2023-10-09 16:03:24 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15866 female "" "" Caucasian "" 15866 Frontal face 2023-10-09 16:03:34 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15867 female "" "" Caucasian "" 15867 Frontal face 2023-10-09 16:03:47 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15868 female "" "" Caucasian "" 15868 Frontal face 2023-10-09 16:03:58 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15869 female "" "" Caucasian "" 15869 Frontal face 2023-10-09 16:04:11 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15870 female "" "" Caucasian "" 15870 Frontal face 2023-10-09 16:04:21 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15871 female "" "" Caucasian "" 15871 Frontal face 2023-10-09 16:04:45 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15872 female "" "" Caucasian "" 15872 Frontal face 2023-10-09 16:04:45 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15873 female "" "" Caucasian "" 15873 Frontal face 2023-10-09 16:04:59 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15874 female "" "" Caucasian "" 15874 Frontal face 2023-10-09 16:05:09 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15875 female "" "" Caucasian "" 15875 Frontal face 2023-10-09 16:05:23 UTC "" "" 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9766 9766 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15876 female "" "" Caucasian "" 15876 Frontal face 2023-10-09 16:05:27 UTC "" "" 0 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9767 9767 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15877 male "" "" Caucasian "" 15877 Frontal face 2023-10-09 16:08:43 UTC "" "" 9 8 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9767 9767 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15877 male "" "" Caucasian "" 15877 Frontal face 2023-10-09 16:08:43 UTC "" "" 9 8 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9767 9767 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15878 male "" "" Caucasian "" 15878 Frontal face 2023-10-09 16:09:27 UTC "" "" 9 8 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9767 9767 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15878 male "" "" Caucasian "" 15878 Frontal face 2023-10-09 16:09:27 UTC "" "" 9 8 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9767 9767 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15879 male "" "" Caucasian "" 15879 Profile 2023-10-09 16:09:34 UTC "" "" 9 8 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/9767 9767 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15879 male "" "" Caucasian "" 15879 Profile 2023-10-09 16:09:34 UTC "" "" 9 8 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/9687 9687 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_15625 unknown "" "" "" "" 15625 Frontal face 2023-09-26 09:11:58 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 0 3 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/9687 9687 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_15625 unknown "" "" "" "" 15625 Frontal face 2023-09-26 09:11:58 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 0 3 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/9687 9687 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_15626 unknown "" "" "" "" 15626 Frontal face 2023-09-26 09:12:12 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 1 8 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/9687 9687 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_15626 unknown "" "" "" "" 15626 Frontal face 2023-09-26 09:12:12 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 1 8 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/9688 9688 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_15627 unknown "" "" "" "" 15627 Frontal face 2023-09-26 09:12:29 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 1 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/9688 9688 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_15627 unknown "" "" "" "" 15627 Frontal face 2023-09-26 09:12:29 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 1 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/9688 9688 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_15628 unknown "" "" "" "" 15628 Frontal face 2023-09-26 09:12:42 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 2 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/9688 9688 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_15628 unknown "" "" "" "" 15628 Frontal face 2023-09-26 09:12:42 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 2 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9793 9793 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15960 male "" "" "" "" 15960 Frontal face 2023-11-04 22:15:13 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 0 7 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9793 9793 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15961 male "" "" "" "" 15961 Profile 2023-11-04 22:15:20 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 0 7 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9793 9793 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15962 male "" "" "" "" 15962 Frontal face 2023-11-04 22:15:47 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 1 5 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9793 9793 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15963 male "" "" "" "" 15963 Profile 2023-11-04 22:16:01 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 1 5 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9793 9793 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15964 male "" "" "" "" 15964 Frontal face 2023-11-04 22:16:20 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 6 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9793 9793 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15965 male "" "" "" "" 15965 Profile 2023-11-04 22:16:34 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 6 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9793 9793 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15966 male "" "" "" "" 15966 Frontal face 2023-11-04 22:16:53 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 14 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9793 9793 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15967 male "" "" "" "" 15967 Profile 2023-11-04 22:17:05 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 14 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9794 9794 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15968 male "" "" "" "" 15968 Frontal face 2023-11-04 22:35:25 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 0 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9794 9794 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15969 male "" "" "" "" 15969 Frontal face 2023-11-04 22:35:37 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 1 5 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9794 9794 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15970 male "" "" "" "" 15970 Frontal face 2023-11-04 22:35:51 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 4 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9794 9794 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15971 male "" "" "" "" 15971 Frontal face 2023-11-04 22:36:05 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 11 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/9794 9794 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_15972 male "" "" "" "" 15972 Profile 2023-11-04 22:36:12 UTC 16531728 http://rdf.ncbi.nlm.nih.gov/pubmed/16531728 11 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9747 9747 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15783 female "" "" "" "" 15783 Frontal face 2023-10-09 08:50:40 UTC "" "" 33 6 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9747 9747 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15783 female "" "" "" "" 15783 Frontal face 2023-10-09 08:50:40 UTC "" "" 33 6 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9747 9747 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15785 female "" "" "" "" 15785 Frontal face 2023-10-09 08:51:10 UTC "" "" 33 6 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9747 9747 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15785 female "" "" "" "" 15785 Frontal face 2023-10-09 08:51:10 UTC "" "" 33 6 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9747 9747 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15787 female "" "" "" "" 15787 Frontal face 2023-10-09 08:52:03 UTC "" "" 33 6 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9747 9747 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15787 female "" "" "" "" 15787 Frontal face 2023-10-09 08:52:03 UTC "" "" 33 6 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9752 9752 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15800 female "" "" "" "" 15800 Frontal face 2023-10-09 09:34:32 UTC "" "" 23 5 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9752 9752 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15801 female "" "" "" "" 15801 Frontal face 2023-10-09 09:37:05 UTC "" "" 23 5 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9752 9752 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15803 female "" "" "" "" 15803 Frontal face 2023-10-09 09:38:33 UTC "" "" 23 5 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9752 9752 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15804 female "" "" "" "" 15804 Frontal face 2023-10-09 09:40:06 UTC "" "" 23 5 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/9752 9752 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15806 female "" "" "" "" 15806 Frontal face 2023-10-09 09:41:11 UTC "" "" 23 5 "" NANDO:1200107 MONDO:0009660 OMIM:253010 https://db.gestaltmatcher.org/patients/9754 9754 MUCOPOLYSACCHARIDOSIS, TYPE IVB https://db.gestaltmatcher.org/patients/image_15811 unknown "" "" "" "" 15811 Frontal face 2023-10-09 09:56:15 UTC "" "" 11 2 "" NANDO:2201179 MONDO:0009660 OMIM:253010 https://db.gestaltmatcher.org/patients/9754 9754 MUCOPOLYSACCHARIDOSIS, TYPE IVB https://db.gestaltmatcher.org/patients/image_15811 unknown "" "" "" "" 15811 Frontal face 2023-10-09 09:56:15 UTC "" "" 11 2 "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9756 9756 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15813 female "" "" "" "" 15813 Frontal face 2023-10-09 12:10:38 UTC "" "" 15 1 "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9756 9756 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15813 female "" "" "" "" 15813 Frontal face 2023-10-09 12:10:38 UTC "" "" 15 1 "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9756 9756 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15814 female "" "" "" "" 15814 Frontal face 2023-10-09 12:11:32 UTC "" "" 15 1 "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/9756 9756 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_15814 female "" "" "" "" 15814 Frontal face 2023-10-09 12:11:32 UTC "" "" 15 1 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9757 9757 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15815 female "" "" "" "" 15815 Frontal face 2023-10-09 12:17:46 UTC "" "" 37 1 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9757 9757 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15815 female "" "" "" "" 15815 Frontal face 2023-10-09 12:17:46 UTC "" "" 37 1 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9757 9757 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15816 female "" "" "" "" 15816 Profile 2023-10-09 12:18:14 UTC "" "" 37 1 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9757 9757 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15816 female "" "" "" "" 15816 Profile 2023-10-09 12:18:14 UTC "" "" 37 1 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9757 9757 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15817 female "" "" "" "" 15817 Frontal face 2023-10-09 12:19:30 UTC "" "" 37 1 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9757 9757 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15817 female "" "" "" "" 15817 Frontal face 2023-10-09 12:19:30 UTC "" "" 37 1 "" NANDO:1200102 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9757 9757 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15818 female "" "" "" "" 15818 Frontal face 2023-10-09 12:25:44 UTC "" "" 37 1 "" NANDO:2201175 MONDO:0009656 OMIM:252920 https://db.gestaltmatcher.org/patients/9757 9757 MUCOPOLYSACCHARIDOSIS, TYPE IIIB https://db.gestaltmatcher.org/patients/image_15818 female "" "" "" "" 15818 Frontal face 2023-10-09 12:25:44 UTC "" "" 37 1 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9758 9758 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15819 female "" "" "" "" 15819 Frontal face 2023-10-09 12:40:17 UTC "" "" 17 5 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9758 9758 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15819 female "" "" "" "" 15819 Frontal face 2023-10-09 12:40:17 UTC "" "" 17 5 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9758 9758 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15820 female "" "" "" "" 15820 Frontal face 2023-10-09 12:40:42 UTC "" "" 17 5 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9758 9758 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15820 female "" "" "" "" 15820 Frontal face 2023-10-09 12:40:42 UTC "" "" 17 5 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15880 male "" "" "" "" 15880 Frontal face 2023-10-09 18:55:44 UTC "" "" 8 2 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15880 male "" "" "" "" 15880 Frontal face 2023-10-09 18:55:44 UTC "" "" 8 2 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15881 male "" "" "" "" 15881 Frontal face 2023-10-09 18:56:08 UTC "" "" 8 2 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15881 male "" "" "" "" 15881 Frontal face 2023-10-09 18:56:08 UTC "" "" 8 2 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15882 male "" "" "" "" 15882 Frontal face 2023-10-09 18:56:32 UTC "" "" 8 2 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15882 male "" "" "" "" 15882 Frontal face 2023-10-09 18:56:32 UTC "" "" 8 2 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15883 male "" "" "" "" 15883 Frontal face 2023-10-09 18:57:04 UTC "" "" 8 2 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15883 male "" "" "" "" 15883 Frontal face 2023-10-09 18:57:04 UTC "" "" 8 2 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15884 male "" "" "" "" 15884 Frontal face 2023-10-09 18:57:26 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15884 male "" "" "" "" 15884 Frontal face 2023-10-09 18:57:26 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15885 male "" "" "" "" 15885 Frontal face 2023-10-09 18:57:48 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15885 male "" "" "" "" 15885 Frontal face 2023-10-09 18:57:48 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15886 male "" "" "" "" 15886 Frontal face 2023-10-09 18:58:02 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15886 male "" "" "" "" 15886 Frontal face 2023-10-09 18:58:02 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15887 male "" "" "" "" 15887 Frontal face 2023-10-09 18:58:15 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15887 male "" "" "" "" 15887 Frontal face 2023-10-09 18:58:15 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15888 male "" "" "" "" 15888 Frontal face 2023-10-09 18:58:39 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15888 male "" "" "" "" 15888 Frontal face 2023-10-09 18:58:39 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15889 male "" "" "" "" 15889 Frontal face 2023-10-09 18:59:00 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15889 male "" "" "" "" 15889 Frontal face 2023-10-09 18:59:00 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15890 male "" "" "" "" 15890 Frontal face 2023-10-09 18:59:13 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15890 male "" "" "" "" 15890 Frontal face 2023-10-09 18:59:13 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15891 male "" "" "" "" 15891 Frontal face 2023-10-09 18:59:23 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15891 male "" "" "" "" 15891 Frontal face 2023-10-09 18:59:23 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15892 male "" "" "" "" 15892 Frontal face 2023-10-09 18:59:37 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15892 male "" "" "" "" 15892 Frontal face 2023-10-09 18:59:37 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15893 male "" "" "" "" 15893 Frontal face 2023-10-09 18:59:47 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15893 male "" "" "" "" 15893 Frontal face 2023-10-09 18:59:47 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15894 male "" "" "" "" 15894 Frontal face 2023-10-09 19:00:30 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15894 male "" "" "" "" 15894 Frontal face 2023-10-09 19:00:30 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15895 male "" "" "" "" 15895 Frontal face 2023-10-09 19:00:41 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15895 male "" "" "" "" 15895 Frontal face 2023-10-09 19:00:41 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15896 male "" "" "" "" 15896 Frontal face 2023-10-09 19:00:54 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15896 male "" "" "" "" 15896 Frontal face 2023-10-09 19:00:54 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15897 male "" "" "" "" 15897 Frontal face 2023-10-09 19:01:05 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15897 male "" "" "" "" 15897 Frontal face 2023-10-09 19:01:05 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15898 male "" "" "" "" 15898 Frontal face 2023-10-09 19:01:18 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15898 male "" "" "" "" 15898 Frontal face 2023-10-09 19:01:18 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15899 male "" "" "" "" 15899 Frontal face 2023-10-09 19:01:58 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15899 male "" "" "" "" 15899 Frontal face 2023-10-09 19:01:58 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15900 male "" "" "" "" 15900 Frontal face 2023-10-09 19:02:21 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15900 male "" "" "" "" 15900 Frontal face 2023-10-09 19:02:21 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15901 male "" "" "" "" 15901 Frontal face 2023-10-09 19:02:32 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15901 male "" "" "" "" 15901 Frontal face 2023-10-09 19:02:32 UTC "" "" 0 0 "" NANDO:1200106 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15902 male "" "" "" "" 15902 Frontal face 2023-10-09 19:02:45 UTC "" "" 0 0 "" NANDO:2201178 MONDO:0009659 OMIM:253000 https://db.gestaltmatcher.org/patients/9760 9760 MUCOPOLYSACCHARIDOSIS, TYPE IVA https://db.gestaltmatcher.org/patients/image_15902 male "" "" "" "" 15902 Frontal face 2023-10-09 19:02:45 UTC "" "" 0 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/1039 1039 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1331 male CDC42 http://identifiers.org/ncbigene/998 Asian - East Japanese 1331 Frontal face 2023-06-24 09:34:51 UTC 26708094 http://rdf.ncbi.nlm.nih.gov/pubmed/26708094 0 3 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/1039 1039 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_14924 male CDC42 http://identifiers.org/ncbigene/998 Asian - East Japanese 14924 Profile 2023-06-24 09:35:13 UTC 26708094 http://rdf.ncbi.nlm.nih.gov/pubmed/26708094 0 3 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/10191 10191 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_16991 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan mixed ancestry 16991 Frontal face 2024-01-30 15:09:53 UTC "" "" 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/10191 10191 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_16991 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan mixed ancestry 16991 Frontal face 2024-01-30 15:09:53 UTC "" "" 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/10205 10205 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_17005 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan mixed ancestry 17005 Frontal face 2024-01-30 15:28:30 UTC "" "" 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/10205 10205 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_17005 female NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan mixed ancestry 17005 Frontal face 2024-01-30 15:28:30 UTC "" "" 0 0 "" NANDO:2201348 MONDO:0008471 OMIM:183900 https://db.gestaltmatcher.org/patients/10397 10397 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA https://db.gestaltmatcher.org/patients/image_17353 female COL2A1 http://identifiers.org/ncbigene/1280 African - Sub-Saharan mixed ancestry 17353 Frontal face 2024-02-07 21:22:58 UTC "" "" 0 0 "" NANDO:2201348 MONDO:0008471 OMIM:183900 https://db.gestaltmatcher.org/patients/10401 10401 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA https://db.gestaltmatcher.org/patients/image_17359 male COL2A1 http://identifiers.org/ncbigene/1280 African - Sub-Saharan mixed ancestry 17359 Frontal face 2024-02-07 21:25:59 UTC "" "" 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/10086 10086 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_16801 female ASXL3 http://identifiers.org/ncbigene/80816 "" USA 16801 Frontal face 2024-01-18 20:25:53 UTC 33751773 http://rdf.ncbi.nlm.nih.gov/pubmed/33751773 8 0 estimated NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/993 993 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1269 male CDC42 http://identifiers.org/ncbigene/998 African "" 1269 Frontal face 2022-02-25 16:37:51 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 2 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/993 993 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1270 male CDC42 http://identifiers.org/ncbigene/998 African "" 1270 Frontal face 2022-02-25 16:37:53 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 3 7 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/997 997 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1274 male CDC42 http://identifiers.org/ncbigene/998 African "" 1274 Frontal face 2022-02-25 16:38:01 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 2 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/997 997 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1275 male CDC42 http://identifiers.org/ncbigene/998 African "" 1275 Frontal face 2022-02-25 16:38:02 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 0 3 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/997 997 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1276 male CDC42 http://identifiers.org/ncbigene/998 African "" 1276 Frontal face 2022-02-25 16:38:05 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 10 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/999 999 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1277 male CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1277 Frontal face 2022-02-25 16:38:06 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 14 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/1000 1000 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1278 male CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1278 Frontal face 2022-02-25 16:38:09 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 12 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/1001 1001 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1279 female CDC42 http://identifiers.org/ncbigene/998 Caucasian "" 1279 Frontal face 2022-02-25 16:38:10 UTC 29394990 http://rdf.ncbi.nlm.nih.gov/pubmed/29394990 0 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/10118 10118 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_16839 male DHCR7 http://identifiers.org/ncbigene/1717 Caucasian "" 16839 Frontal face 2024-01-22 14:38:56 UTC 33204589 http://rdf.ncbi.nlm.nih.gov/pubmed/33204589 0 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/10118 10118 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_16839 male DHCR7 http://identifiers.org/ncbigene/1717 Caucasian "" 16839 Frontal face 2024-01-22 14:38:56 UTC 33204589 http://rdf.ncbi.nlm.nih.gov/pubmed/33204589 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/10183 10183 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_16983 male NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan "" 16983 Frontal face 2024-01-30 14:58:40 UTC "" "" 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/10183 10183 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_16983 male NSD1 http://identifiers.org/ncbigene/64324 African - Sub-Saharan "" 16983 Frontal face 2024-01-30 14:58:40 UTC "" "" 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/10198 10198 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_16998 male LMNA http://identifiers.org/ncbigene/4000 African - Sub-Saharan "" 16998 Frontal face 2024-01-30 15:18:51 UTC "" "" 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/10198 10198 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_16998 male LMNA http://identifiers.org/ncbigene/4000 African - Sub-Saharan "" 16998 Frontal face 2024-01-30 15:18:51 UTC "" "" 0 0 "" NANDO:1200350 MONDO:0008963 OMIM:214500 https://db.gestaltmatcher.org/patients/10092 10092 CHEDIAK-HIGASHI SYNDROME https://db.gestaltmatcher.org/patients/image_16807 unknown LYST http://identifiers.org/ncbigene/1130 "" "" 16807 Frontal face 2024-01-19 15:56:08 UTC 9613388 http://rdf.ncbi.nlm.nih.gov/pubmed/9613388 0 0 not mentioned but likely less than 1 year NANDO:2200724 MONDO:0008963 OMIM:214500 https://db.gestaltmatcher.org/patients/10092 10092 CHEDIAK-HIGASHI SYNDROME https://db.gestaltmatcher.org/patients/image_16807 unknown LYST http://identifiers.org/ncbigene/1130 "" "" 16807 Frontal face 2024-01-19 15:56:08 UTC 9613388 http://rdf.ncbi.nlm.nih.gov/pubmed/9613388 0 0 not mentioned but likely less than 1 year NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/10247 10247 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_17071 male KMT2A http://identifiers.org/ncbigene/4297 "" "" 17071 Frontal face 2024-02-01 15:54:51 UTC 38050656 http://rdf.ncbi.nlm.nih.gov/pubmed/38050656 0 0 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/10249 10249 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_17072 female SGSH http://identifiers.org/ncbigene/6448 "" "" 17072 Frontal face 2024-02-01 16:04:32 UTC 38050656 http://rdf.ncbi.nlm.nih.gov/pubmed/38050656 0 0 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/10249 10249 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_17072 female SGSH http://identifiers.org/ncbigene/6448 "" "" 17072 Frontal face 2024-02-01 16:04:32 UTC 38050656 http://rdf.ncbi.nlm.nih.gov/pubmed/38050656 0 0 "" NANDO:2201174 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/10249 10249 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_17073 female SGSH http://identifiers.org/ncbigene/6448 "" "" 17073 Frontal face 2024-02-01 16:04:45 UTC 38050656 http://rdf.ncbi.nlm.nih.gov/pubmed/38050656 0 0 "" NANDO:1200101 MONDO:0009655 OMIM:252900 https://db.gestaltmatcher.org/patients/10249 10249 MUCOPOLYSACCHARIDOSIS, TYPE IIIA https://db.gestaltmatcher.org/patients/image_17073 female SGSH http://identifiers.org/ncbigene/6448 "" "" 17073 Frontal face 2024-02-01 16:04:45 UTC 38050656 http://rdf.ncbi.nlm.nih.gov/pubmed/38050656 0 0 "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10173 10173 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17017 male ATM http://identifiers.org/ncbigene/472 "" "" 17017 Frontal face 2024-02-14 14:15:10 UTC "" "" 2 0 "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10173 10173 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17017 male ATM http://identifiers.org/ncbigene/472 "" "" 17017 Frontal face 2024-02-14 14:15:10 UTC "" "" 2 0 "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10217 10217 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17018 male ATM http://identifiers.org/ncbigene/472 "" "" 17018 Frontal face 2024-01-30 15:48:57 UTC "" "" 0 0 "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10217 10217 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17018 male ATM http://identifiers.org/ncbigene/472 "" "" 17018 Frontal face 2024-01-30 15:48:57 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10193 10193 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_16993 female "" "" African - Sub-Saharan mixed ancestry 16993 Frontal face 2024-01-30 15:12:20 UTC "" "" 0 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10202 10202 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17002 female "" "" African - Sub-Saharan mixed ancestry 17002 Frontal face 2024-01-30 15:23:19 UTC "" "" 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10202 10202 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17002 female "" "" African - Sub-Saharan mixed ancestry 17002 Frontal face 2024-01-30 15:23:19 UTC "" "" 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10203 10203 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17003 male "" "" African - Sub-Saharan mixed ancestry 17003 Frontal face 2024-01-30 15:24:33 UTC "" "" 0 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10203 10203 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17003 male "" "" African - Sub-Saharan mixed ancestry 17003 Frontal face 2024-01-30 15:24:33 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10204 10204 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17004 female "" "" African - Sub-Saharan mixed ancestry 17004 Frontal face 2024-01-30 15:25:56 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10206 10206 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17006 female "" "" African - Sub-Saharan mixed ancestry 17006 Frontal face 2024-01-30 15:29:36 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10207 10207 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17007 female "" "" African - Sub-Saharan mixed ancestry 17007 Frontal face 2024-01-30 15:30:23 UTC "" "" 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10215 10215 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17015 male "" "" African - Sub-Saharan mixed ancestry 17015 Frontal face 2024-01-30 15:38:32 UTC "" "" 0 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10215 10215 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17015 male "" "" African - Sub-Saharan mixed ancestry 17015 Frontal face 2024-01-30 15:38:32 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/10216 10216 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_17016 male "" "" African - Sub-Saharan mixed ancestry 17016 Frontal face 2024-01-30 15:39:12 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/10216 10216 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_17016 male "" "" African - Sub-Saharan mixed ancestry 17016 Frontal face 2024-01-30 15:39:12 UTC "" "" 0 0 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/10389 10389 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_17346 female "" "" African - Sub-Saharan mixed ancestry 17346 Frontal face 2024-02-07 21:17:03 UTC "" "" 0 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/10389 10389 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_17346 female "" "" African - Sub-Saharan mixed ancestry 17346 Frontal face 2024-02-07 21:17:03 UTC "" "" 0 0 "" NANDO:2200961 MONDO:0007404 OMIM:123450 https://db.gestaltmatcher.org/patients/10169 10169 CRI-DU-CHAT SYNDROME https://db.gestaltmatcher.org/patients/image_16954 female "" "" "" Egyptian 16954 Frontal face 2024-01-27 20:56:59 UTC "" "" 0 0 Diagnosis: Karyotype: 46,XX,add(5)(p15.3) mat.Array was Done. NANDO:1200684 MONDO:0007404 OMIM:123450 https://db.gestaltmatcher.org/patients/10169 10169 CRI-DU-CHAT SYNDROME https://db.gestaltmatcher.org/patients/image_16954 female "" "" "" Egyptian 16954 Frontal face 2024-01-27 20:56:59 UTC "" "" 0 0 Diagnosis: Karyotype: 46,XX,add(5)(p15.3) mat.Array was Done. NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/100 100 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_128 female "" "" "" Paraguayan 128 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/100 100 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_128 female "" "" "" Paraguayan 128 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/100 100 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_129 female "" "" "" Paraguayan 129 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/100 100 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_129 female "" "" "" Paraguayan 129 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/10 10 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_13 male "" "" "" African 13 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/10 10 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_13 male "" "" "" African 13 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/101 101 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_130 female "" "" "" Peruvian 130 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/101 101 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_130 female "" "" "" Peruvian 130 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/102 102 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_131 male "" "" "" Peruvian 131 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 2 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/102 102 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_131 male "" "" "" Peruvian 131 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 2 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/103 103 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_132 female "" "" "" Peruvian 132 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 4 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/103 103 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_132 female "" "" "" Peruvian 132 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 4 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/104 104 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_133 male "" "" "" Peruvian 133 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/104 104 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_133 male "" "" "" Peruvian 133 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/10 10 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14 male "" "" "" African 14 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/10 10 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_14 male "" "" "" African 14 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10188 10188 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_16988 male "" "" African - Sub-Saharan "" 16988 Frontal face 2024-01-30 15:05:59 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10194 10194 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_16994 male "" "" African - Sub-Saharan "" 16994 Frontal face 2024-01-30 15:13:33 UTC "" "" 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/10196 10196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_16996 female "" "" African - Sub-Saharan "" 16996 Frontal face 2024-01-30 15:16:24 UTC "" "" 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/10196 10196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_16996 female "" "" African - Sub-Saharan "" 16996 Frontal face 2024-01-30 15:16:24 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10197 10197 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_16997 male "" "" African - Sub-Saharan "" 16997 Frontal face 2024-01-30 15:17:37 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10199 10199 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_16999 male "" "" African - Sub-Saharan "" 16999 Frontal face 2024-01-30 15:19:58 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10210 10210 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17010 male "" "" African - Sub-Saharan "" 17010 Frontal face 2024-01-30 15:33:24 UTC "" "" 0 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/1044 1044 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_1337 female CDC42 http://identifiers.org/ncbigene/998 Asian Japanese/Iran 1337 Frontal face 2022-02-25 16:39:43 UTC 26386261 http://rdf.ncbi.nlm.nih.gov/pubmed/26386261 0 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/10411 10411 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_17375 male IDS http://identifiers.org/ncbigene/3423 African - Sub-Saharan mixed ancestry 17375 Frontal face 2024-02-07 21:33:02 UTC "" "" 0 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/10411 10411 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_17375 male IDS http://identifiers.org/ncbigene/3423 African - Sub-Saharan mixed ancestry 17375 Frontal face 2024-02-07 21:33:02 UTC "" "" 0 0 "" NANDO:2201348 MONDO:0008471 OMIM:183900 https://db.gestaltmatcher.org/patients/10417 10417 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA https://db.gestaltmatcher.org/patients/image_17383 female COL2A1 http://identifiers.org/ncbigene/1280 African - Sub-Saharan mixed ancestry 17383 Frontal face 2024-02-07 21:36:53 UTC "" "" 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/10428 10428 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_17399 male FGFR3 http://identifiers.org/ncbigene/2261 African - Sub-Saharan "" 17399 Frontal face 2024-02-08 11:58:08 UTC "" "" 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/10428 10428 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_17399 male FGFR3 http://identifiers.org/ncbigene/2261 African - Sub-Saharan "" 17399 Frontal face 2024-02-08 11:58:08 UTC "" "" 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/10422 10422 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_17389 male "" "" African - Sub-Saharan, European Afrikaner 17389 Frontal face 2024-02-07 21:40:18 UTC "" "" 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/10422 10422 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_17389 male "" "" African - Sub-Saharan, European Afrikaner 17389 Frontal face 2024-02-07 21:40:18 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10433 10433 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17404 male "" "" African - Sub-Saharan mixed ancestry 17404 Frontal face 2024-02-08 12:02:59 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10436 10436 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17407 female "" "" African - Sub-Saharan mixed ancestry 17407 Frontal face 2024-02-16 15:27:33 UTC "" "" 0 0 "" NANDO:1200689 MONDO:0012176 OMIM:609029 https://db.gestaltmatcher.org/patients/10412 10412 EMANUEL SYNDROME https://db.gestaltmatcher.org/patients/image_17376 male "" "" African - Sub-Saharan "" 17376 Frontal face 2024-02-07 21:33:45 UTC "" "" 0 0 "" NANDO:1200682 MONDO:0011929 OMIM:607872 https://db.gestaltmatcher.org/patients/10415 10415 CHROMOSOME 1p36 DELETION SYNDROME, DISTAL https://db.gestaltmatcher.org/patients/image_17381 female "" "" African - Sub-Saharan "" 17381 Frontal face 2024-02-07 21:35:49 UTC "" "" 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10431 10431 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17402 female "" "" African - Sub-Saharan "" 17402 Frontal face 2024-02-08 12:01:06 UTC "" "" 0 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10431 10431 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17402 female "" "" African - Sub-Saharan "" 17402 Frontal face 2024-02-08 12:01:06 UTC "" "" 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10432 10432 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17403 female "" "" African - Sub-Saharan "" 17403 Frontal face 2024-02-08 12:02:06 UTC "" "" 0 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10432 10432 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17403 female "" "" African - Sub-Saharan "" 17403 Frontal face 2024-02-08 12:02:06 UTC "" "" 0 0 "" NANDO:1200336 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10701 10701 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17847 female ATM http://identifiers.org/ncbigene/472 European Poland 17847 Frontal face 2024-02-23 13:55:56 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 12 0 "" NANDO:2200710 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10701 10701 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17847 female ATM http://identifiers.org/ncbigene/472 European Poland 17847 Frontal face 2024-02-23 13:55:56 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 12 0 "" NANDO:1200336 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10701 10701 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17847 female RNF168 http://identifiers.org/ncbigene/165918 European Poland 17847 Frontal face 2024-02-23 13:55:56 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 12 0 "" NANDO:2200710 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10701 10701 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17847 female RNF168 http://identifiers.org/ncbigene/165918 European Poland 17847 Frontal face 2024-02-23 13:55:56 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 12 0 "" NANDO:1200336 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10701 10701 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17848 female ATM http://identifiers.org/ncbigene/472 European Poland 17848 Frontal face 2024-02-23 13:56:07 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 12 0 "" NANDO:2200710 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10701 10701 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17848 female ATM http://identifiers.org/ncbigene/472 European Poland 17848 Frontal face 2024-02-23 13:56:07 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 12 0 "" NANDO:1200336 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10701 10701 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17848 female RNF168 http://identifiers.org/ncbigene/165918 European Poland 17848 Frontal face 2024-02-23 13:56:07 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 12 0 "" NANDO:2200710 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10701 10701 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17848 female RNF168 http://identifiers.org/ncbigene/165918 European Poland 17848 Frontal face 2024-02-23 13:56:07 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 12 0 "" NANDO:1200336 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10702 10702 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17849 male RNF168 http://identifiers.org/ncbigene/165918 European Poland 17849 Frontal face 2024-02-23 14:08:40 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 21 0 "" NANDO:2200710 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10702 10702 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17849 male RNF168 http://identifiers.org/ncbigene/165918 European Poland 17849 Frontal face 2024-02-23 14:08:40 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 21 0 "" NANDO:1200336 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10702 10702 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17850 male RNF168 http://identifiers.org/ncbigene/165918 European Poland 17850 Frontal face 2024-02-23 14:08:51 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 21 0 "" NANDO:2200710 MONDO:0012764 OMIM:611943 https://db.gestaltmatcher.org/patients/10702 10702 RIDDLE SYNDROME https://db.gestaltmatcher.org/patients/image_17850 male RNF168 http://identifiers.org/ncbigene/165918 European Poland 17850 Frontal face 2024-02-23 14:08:51 UTC 29255463 http://rdf.ncbi.nlm.nih.gov/pubmed/29255463 21 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10838 10838 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18052 male USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18052 Frontal face 2024-03-05 20:19:01 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 21 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10838 10838 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18053 male USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18053 Profile 2024-03-05 20:19:10 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 21 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10838 10838 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18054 male USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18054 Limbs 2024-03-05 20:19:34 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 21 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10838 10838 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18055 male USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18055 Limbs 2024-03-05 20:19:57 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 21 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10838 10838 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18056 male USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18056 Limbs 2024-03-05 20:20:31 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 21 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10838 10838 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18057 male USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18057 Others 2024-03-05 20:21:02 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 21 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10838 10838 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18058 male USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18058 Others 2024-03-05 20:21:25 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 21 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10894 10894 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18153 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18153 Frontal face 2024-03-09 09:35:48 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 16 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10894 10894 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18154 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18154 Frontal face 2024-03-09 09:35:58 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 16 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10894 10894 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18155 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18155 Limbs 2024-03-09 09:36:06 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 16 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10894 10894 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18156 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18156 Others 2024-03-09 09:36:33 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 10 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10894 10894 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18157 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18157 Frontal face 2024-03-09 09:37:01 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 10 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10894 10894 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18158 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18158 Profile 2024-03-09 09:37:05 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 10 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10894 10894 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18159 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18159 Limbs 2024-03-09 09:37:23 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 10 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10894 10894 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18160 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18160 Limbs 2024-03-09 09:37:45 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 10 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10895 10895 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18161 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18161 Frontal face 2024-03-09 10:54:37 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 12 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10895 10895 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18162 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18162 Profile 2024-03-09 10:54:50 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 12 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10895 10895 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18163 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18163 Limbs 2024-03-09 10:55:12 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 8 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10895 10895 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18164 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18164 Limbs 2024-03-09 10:55:28 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 12 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10895 10895 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18165 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18165 Frontal face 2024-03-09 10:56:07 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 8 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10895 10895 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18166 female USB1 http://identifiers.org/ncbigene/79650 European - Southern Italian 18166 Limbs 2024-03-09 10:56:18 UTC 20734427 http://rdf.ncbi.nlm.nih.gov/pubmed/20734427 8 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18168 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18168 Frontal face 2024-03-09 21:26:15 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18169 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18169 Profile 2024-03-09 21:26:43 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18170 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18170 Profile 2024-03-09 21:27:01 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18171 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18171 Others 2024-03-09 21:27:17 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18172 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18172 Others 2024-03-09 21:27:39 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18173 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18173 Others 2024-03-09 21:27:58 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18174 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18174 Others 2024-03-09 21:28:17 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18175 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18175 Limbs 2024-03-09 21:28:35 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18176 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18176 Limbs 2024-03-09 21:28:52 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18177 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18177 Limbs 2024-03-09 21:29:10 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18178 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18178 Limbs 2024-03-09 21:29:29 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18179 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18179 Limbs 2024-03-09 21:29:48 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18180 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18180 Limbs 2024-03-09 21:30:09 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18181 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18181 Limbs 2024-03-09 21:30:26 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18182 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18182 Limbs 2024-03-09 21:30:46 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18183 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18183 Hand X-ray 2024-03-09 21:31:04 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18184 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18184 Hand X-ray 2024-03-09 21:31:21 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18185 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18185 MRI 2024-03-09 21:31:43 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18186 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18186 MRI 2024-03-09 21:32:04 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18187 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18187 MRI 2024-03-09 21:32:22 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10897 10897 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18188 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18188 MRI 2024-03-09 21:32:43 UTC 32620997 http://rdf.ncbi.nlm.nih.gov/pubmed/32620997 27 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10911 10911 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18229 female USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18229 Frontal face 2024-03-11 16:11:10 UTC 26546903 http://rdf.ncbi.nlm.nih.gov/pubmed/26546903 6 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10911 10911 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18230 female USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18230 Limbs 2024-03-11 16:11:19 UTC 26546903 http://rdf.ncbi.nlm.nih.gov/pubmed/26546903 6 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10911 10911 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18231 female USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18231 Limbs 2024-03-11 16:11:43 UTC 26546903 http://rdf.ncbi.nlm.nih.gov/pubmed/26546903 6 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10913 10913 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18234 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18234 Frontal face 2024-03-11 16:21:25 UTC 26546903 http://rdf.ncbi.nlm.nih.gov/pubmed/26546903 8 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10913 10913 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18235 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18235 Limbs 2024-03-11 16:21:33 UTC 26546903 http://rdf.ncbi.nlm.nih.gov/pubmed/26546903 8 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10914 10914 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18236 female USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18236 Frontal face 2024-03-11 16:30:18 UTC 26546903 http://rdf.ncbi.nlm.nih.gov/pubmed/26546903 13 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10914 10914 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18237 female USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18237 Limbs 2024-03-11 16:30:22 UTC 26546903 http://rdf.ncbi.nlm.nih.gov/pubmed/26546903 13 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10914 10914 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18239 female USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern Turkish 18239 Limbs 2024-03-11 16:30:37 UTC 26546903 http://rdf.ncbi.nlm.nih.gov/pubmed/26546903 13 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10971 10971 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18328 male USB1 http://identifiers.org/ncbigene/79650 Asian Asian-Indian 18328 Profile 2024-03-14 14:53:46 UTC 21967010 http://rdf.ncbi.nlm.nih.gov/pubmed/21967010 5 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10971 10971 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18329 male USB1 http://identifiers.org/ncbigene/79650 Asian Asian-Indian 18329 Frontal face 2024-03-14 14:54:14 UTC 21967010 http://rdf.ncbi.nlm.nih.gov/pubmed/21967010 5 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10972 10972 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18330 male USB1 http://identifiers.org/ncbigene/79650 Asian - South/Indian Asian-Indian 18330 Frontal face 2024-03-14 15:00:57 UTC 21967010 http://rdf.ncbi.nlm.nih.gov/pubmed/21967010 1 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10973 10973 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18331 female USB1 http://identifiers.org/ncbigene/79650 American - Latin/Hispanic Navajo-Indian 18331 Frontal face 2024-03-14 15:19:26 UTC 21967010 http://rdf.ncbi.nlm.nih.gov/pubmed/21967010 6 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10973 10973 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18332 female USB1 http://identifiers.org/ncbigene/79650 American - Latin/Hispanic Navajo-Indian 18332 Limbs 2024-03-14 15:19:40 UTC 21967010 http://rdf.ncbi.nlm.nih.gov/pubmed/21967010 6 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10973 10973 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18333 female USB1 http://identifiers.org/ncbigene/79650 American - Latin/Hispanic Navajo-Indian 18333 Others 2024-03-14 15:20:00 UTC 21967010 http://rdf.ncbi.nlm.nih.gov/pubmed/21967010 0 0 "" NANDO:1200579 MONDO:0011147 OMIM:601808 https://db.gestaltmatcher.org/patients/10542 10542 CHROMOSOME 18q DELETION SYNDROME https://db.gestaltmatcher.org/patients/image_17548 male DEL18Q http://identifiers.org/ncbigene/100216483 African - Sub-Saharan mixed ancestry 17548 Frontal face 2024-02-09 20:58:38 UTC "" "" 0 0 "" NANDO:2201291 MONDO:0011147 OMIM:601808 https://db.gestaltmatcher.org/patients/10542 10542 CHROMOSOME 18q DELETION SYNDROME https://db.gestaltmatcher.org/patients/image_17548 male DEL18Q http://identifiers.org/ncbigene/100216483 African - Sub-Saharan mixed ancestry 17548 Frontal face 2024-02-09 20:58:38 UTC "" "" 0 0 "" NANDO:1200579 MONDO:0011147 OMIM:601808 https://db.gestaltmatcher.org/patients/10543 10543 CHROMOSOME 18q DELETION SYNDROME https://db.gestaltmatcher.org/patients/image_17549 female DEL18Q http://identifiers.org/ncbigene/100216483 African - Sub-Saharan mixed ancestry 17549 Frontal face 2024-02-09 20:59:59 UTC "" "" 0 0 "" NANDO:2201291 MONDO:0011147 OMIM:601808 https://db.gestaltmatcher.org/patients/10543 10543 CHROMOSOME 18q DELETION SYNDROME https://db.gestaltmatcher.org/patients/image_17549 female DEL18Q http://identifiers.org/ncbigene/100216483 African - Sub-Saharan mixed ancestry 17549 Frontal face 2024-02-09 20:59:59 UTC "" "" 0 0 "" NANDO:2201348 MONDO:0008471 OMIM:183900 https://db.gestaltmatcher.org/patients/10546 10546 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA https://db.gestaltmatcher.org/patients/image_17552 female COL2A1 http://identifiers.org/ncbigene/1280 African - Sub-Saharan mixed ancestry 17552 Frontal face 2024-02-09 21:04:26 UTC "" "" 0 0 "" NANDO:2201348 MONDO:0008471 OMIM:183900 https://db.gestaltmatcher.org/patients/10547 10547 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA https://db.gestaltmatcher.org/patients/image_17553 female COL2A1 http://identifiers.org/ncbigene/1280 African - Sub-Saharan mixed ancestry 17553 Frontal face 2024-02-09 21:06:17 UTC "" "" 0 0 "" NANDO:2201348 MONDO:0008471 OMIM:183900 https://db.gestaltmatcher.org/patients/10738 10738 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA https://db.gestaltmatcher.org/patients/image_17916 female COL2A1 http://identifiers.org/ncbigene/1280 African - Sub-Saharan mixed ancestry 17916 Frontal face 2024-02-26 10:41:42 UTC "" "" 0 0 "" NANDO:2201348 MONDO:0008471 OMIM:183900 https://db.gestaltmatcher.org/patients/10738 10738 SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA https://db.gestaltmatcher.org/patients/image_17917 female COL2A1 http://identifiers.org/ncbigene/1280 African - Sub-Saharan mixed ancestry 17917 Hand X-ray 2024-04-09 23:34:07 UTC "" "" 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/10955 10955 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_18304 male ASXL3 http://identifiers.org/ncbigene/80816 African - Sub-Saharan Mixed ancestry 18304 Frontal face 2024-03-13 15:13:30 UTC "" "" 17 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1049 1049 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1342 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1342 Frontal face 2023-06-25 11:39:46 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 1 7 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1049 1049 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1343 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1343 Profile 2023-06-25 11:39:56 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 1 7 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1049 1049 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1344 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1344 Frontal face 2023-06-25 11:40:05 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 4 7 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1050 1050 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1345 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1345 Frontal face 2023-06-25 11:40:51 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 7 3 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1050 1050 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1346 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1346 Profile 2023-06-25 11:40:58 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 7 3 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1050 1050 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1347 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1347 Frontal face 2023-06-25 11:41:08 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 14 3 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1051 1051 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1348 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1348 Frontal face 2023-06-25 11:45:51 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 9 7 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1051 1051 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1349 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1349 Profile 2023-06-25 11:46:01 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 9 7 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1051 1051 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1350 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1350 Frontal face 2023-06-25 11:46:09 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 12 10 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1052 1052 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1351 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1351 Frontal face 2023-06-25 12:04:14 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 6 9 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/1052 1052 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_1352 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 1352 Profile 2023-06-25 12:04:24 UTC 25342064 http://rdf.ncbi.nlm.nih.gov/pubmed/25342064 6 9 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/10489 10489 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_17491 male FGFR3 http://identifiers.org/ncbigene/2261 African - Sub-Saharan "" 17491 Frontal face 2024-02-08 20:03:49 UTC "" "" 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/10489 10489 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_17491 male FGFR3 http://identifiers.org/ncbigene/2261 African - Sub-Saharan "" 17491 Frontal face 2024-02-08 20:03:49 UTC "" "" 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/10495 10495 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_17497 male FGFR3 http://identifiers.org/ncbigene/2261 African - Sub-Saharan "" 17497 Frontal face 2024-02-08 20:09:27 UTC "" "" 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/10495 10495 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_17497 male FGFR3 http://identifiers.org/ncbigene/2261 African - Sub-Saharan "" 17497 Frontal face 2024-02-08 20:09:27 UTC "" "" 0 0 "" NANDO:2201018 MONDO:0008322 OMIM:177170 https://db.gestaltmatcher.org/patients/10539 10539 PSEUDOACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_17545 female COMP http://identifiers.org/ncbigene/1311 African - Sub-Saharan "" 17545 Frontal face 2024-02-09 20:53:34 UTC "" "" 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/10653 10653 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_17763 female FMR1 http://identifiers.org/ncbigene/2332 European "" 17763 Frontal face 2024-02-20 15:13:30 UTC "" "" 2 8 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/10653 10653 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_17763 female FMR1 http://identifiers.org/ncbigene/2332 European "" 17763 Frontal face 2024-02-20 15:13:30 UTC "" "" 2 8 "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/10753 10753 STICKLER SYNDROME, TYPE I https://db.gestaltmatcher.org/patients/image_17938 male COL2A1 http://identifiers.org/ncbigene/1280 African - Sub-Saharan "" 17938 Frontal face 2024-02-26 15:59:13 UTC "" "" 0 3 "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/10815 10815 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_18011 male FGFR2 http://identifiers.org/ncbigene/2263 African - Sub-Saharan "" 18011 Frontal face 2024-02-29 15:37:37 UTC "" "" 0 5 "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/10815 10815 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_18011 male FGFR2 http://identifiers.org/ncbigene/2263 African - Sub-Saharan "" 18011 Frontal face 2024-02-29 15:37:37 UTC "" "" 0 5 "" NANDO:1200580 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10828 10828 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18034 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18034 Frontal face 2024-03-03 17:48:50 UTC "" "" 2 10 "" NANDO:2201292 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10828 10828 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18034 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18034 Frontal face 2024-03-03 17:48:50 UTC "" "" 2 10 "" NANDO:1200580 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10828 10828 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18035 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18035 Frontal face 2024-03-03 17:49:42 UTC "" "" 2 10 "" NANDO:2201292 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10828 10828 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18035 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18035 Frontal face 2024-03-03 17:49:42 UTC "" "" 2 10 "" NANDO:1200580 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10828 10828 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18036 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18036 Frontal face 2024-03-03 17:50:06 UTC "" "" 3 4 "" NANDO:2201292 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10828 10828 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18036 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18036 Frontal face 2024-03-03 17:50:06 UTC "" "" 3 4 "" NANDO:2201292 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10830 10830 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18038 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18038 Frontal face 2024-03-03 17:59:20 UTC "" "" 1 3 "" NANDO:1200580 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10830 10830 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18038 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18038 Frontal face 2024-03-03 17:59:20 UTC "" "" 1 3 "" NANDO:2201292 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10830 10830 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18039 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18039 Frontal face 2024-03-03 17:59:34 UTC "" "" 1 9 "" NANDO:1200580 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/10830 10830 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_18039 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian "" 18039 Frontal face 2024-03-03 17:59:34 UTC "" "" 1 9 "" NANDO:1200001 MONDO:0010735 OMIM:313200 https://db.gestaltmatcher.org/patients/10886 10886 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 https://db.gestaltmatcher.org/patients/image_18144 male AR http://identifiers.org/ncbigene/367 Caucasian "" 18144 Frontal face 2024-03-08 12:34:00 UTC "" "" 55 3 "" NANDO:1200001 MONDO:0010735 OMIM:313200 https://db.gestaltmatcher.org/patients/10886 10886 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 https://db.gestaltmatcher.org/patients/image_18145 male AR http://identifiers.org/ncbigene/367 Caucasian "" 18145 Consent 2024-03-08 12:52:12 UTC "" "" 0 0 "" NANDO:1200001 MONDO:0010735 OMIM:313200 https://db.gestaltmatcher.org/patients/10886 10886 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 https://db.gestaltmatcher.org/patients/image_18146 male AR http://identifiers.org/ncbigene/367 Caucasian "" 18146 Consent 2024-03-08 12:52:21 UTC "" "" 0 0 "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10696 10696 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17840 female "" "" European Irish/Scottish/German/Indian 17840 Frontal face 2024-02-23 10:08:07 UTC 13775796 http://rdf.ncbi.nlm.nih.gov/pubmed/13775796 9 0 "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10696 10696 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17840 female "" "" European Irish/Scottish/German/Indian 17840 Frontal face 2024-02-23 10:08:07 UTC 13775796 http://rdf.ncbi.nlm.nih.gov/pubmed/13775796 9 0 "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10696 10696 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17841 female "" "" European Irish/Scottish/German/Indian 17841 Frontal face 2024-02-23 10:08:30 UTC 13775796 http://rdf.ncbi.nlm.nih.gov/pubmed/13775796 9 0 "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10696 10696 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17841 female "" "" European Irish/Scottish/German/Indian 17841 Frontal face 2024-02-23 10:08:30 UTC 13775796 http://rdf.ncbi.nlm.nih.gov/pubmed/13775796 9 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10896 10896 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18167 female "" "" African - North Marocco 18167 Frontal face 2024-03-09 11:21:01 UTC 18925663 http://rdf.ncbi.nlm.nih.gov/pubmed/18925663 8 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10934 10934 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18266 female "" "" Asian - West/Middle Eastern Turkish 18266 Frontal face 2024-03-12 15:06:13 UTC 15558713 http://rdf.ncbi.nlm.nih.gov/pubmed/15558713 0 10 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10934 10934 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18267 female "" "" Asian - West/Middle Eastern Turkish 18267 Limbs 2024-03-12 15:06:23 UTC 15558713 http://rdf.ncbi.nlm.nih.gov/pubmed/15558713 0 10 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10969 10969 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18326 male "" "" Asian - West/Middle Eastern Turkish 18326 Frontal face 2024-03-14 14:14:39 UTC 15558713 http://rdf.ncbi.nlm.nih.gov/pubmed/15558713 0 11 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/10969 10969 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18327 male "" "" Asian - West/Middle Eastern Turkish 18327 Limbs 2024-03-14 14:14:51 UTC 15558713 http://rdf.ncbi.nlm.nih.gov/pubmed/15558713 0 11 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10494 10494 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17496 female "" "" African - Sub-Saharan mixed ancestry 17496 Frontal face 2024-02-08 20:08:54 UTC "" "" 0 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/10523 10523 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_17529 male "" "" African - Sub-Saharan mixed ancestry 17529 Frontal face 2024-02-09 20:11:36 UTC "" "" 0 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/10523 10523 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_17529 male "" "" African - Sub-Saharan mixed ancestry 17529 Frontal face 2024-02-09 20:11:36 UTC "" "" 0 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/10523 10523 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_17529 male "" "" African - Sub-Saharan mixed ancestry 17529 Frontal face 2024-02-09 20:11:36 UTC "" "" 0 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/10524 10524 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_17530 female "" "" African - Sub-Saharan mixed ancestry 17530 Frontal face 2024-02-09 20:12:38 UTC "" "" 0 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/10524 10524 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_17530 female "" "" African - Sub-Saharan mixed ancestry 17530 Frontal face 2024-02-09 20:12:38 UTC "" "" 0 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/10524 10524 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_17530 female "" "" African - Sub-Saharan mixed ancestry 17530 Frontal face 2024-02-09 20:12:38 UTC "" "" 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10528 10528 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17534 male "" "" African - Sub-Saharan mixed ancestry 17534 Frontal face 2024-02-09 20:32:28 UTC "" "" 0 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10528 10528 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17534 male "" "" African - Sub-Saharan mixed ancestry 17534 Frontal face 2024-02-09 20:32:28 UTC "" "" 0 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10529 10529 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17535 male "" "" African - Sub-Saharan mixed ancestry 17535 Frontal face 2024-02-09 20:34:02 UTC "" "" 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10529 10529 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17535 male "" "" African - Sub-Saharan mixed ancestry 17535 Frontal face 2024-02-09 20:34:02 UTC "" "" 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/10535 10535 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_17541 male "" "" African - Sub-Saharan mixed ancestry 17541 Frontal face 2024-02-09 20:47:43 UTC "" "" 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/10535 10535 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_17541 male "" "" African - Sub-Saharan mixed ancestry 17541 Frontal face 2024-02-09 20:47:43 UTC "" "" 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/10536 10536 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_17542 female "" "" African - Sub-Saharan mixed ancestry 17542 Frontal face 2024-02-09 20:49:37 UTC "" "" 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/10536 10536 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_17542 female "" "" African - Sub-Saharan mixed ancestry 17542 Frontal face 2024-02-09 20:49:37 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10750 10750 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17932 female "" "" African - Sub-Saharan Mixed ancestry 17932 Frontal face 2024-02-26 13:46:54 UTC "" "" 2 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10751 10751 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17933 male "" "" African - Sub-Saharan Mixed ancestry 17933 Frontal face 2024-02-26 13:48:06 UTC "" "" 4 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10958 10958 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_18307 male "" "" African - Sub-Saharan Mixed ancestry 18307 Frontal face 2024-03-13 15:18:11 UTC "" "" 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/105 105 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_134 female "" "" "" Peruvian 134 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/105 105 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_134 female "" "" "" Peruvian 134 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/106 106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_135 female "" "" "" Peruvian 135 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/106 106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_135 female "" "" "" Peruvian 135 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/107 107 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_136 female "" "" "" USA 136 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/107 107 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_136 female "" "" "" USA 136 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/108 108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_137 male "" "" "" USA 137 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 3 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/108 108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_137 male "" "" "" USA 137 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 3 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/109 109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_138 female "" "" "" USA 138 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/109 109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_138 female "" "" "" USA 138 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11 11 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_15 female "" "" "" African 15 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11 11 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_15 female "" "" "" African 15 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11 11 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_16 female "" "" "" African 16 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11 11 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_16 female "" "" "" African 16 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10788 10788 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17975 male "" "" Caucasian "" 17975 Frontal face 2024-02-28 16:05:38 UTC 21337117 http://rdf.ncbi.nlm.nih.gov/pubmed/21337117 0 0 "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10788 10788 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17975 male "" "" Caucasian "" 17975 Frontal face 2024-02-28 16:05:38 UTC 21337117 http://rdf.ncbi.nlm.nih.gov/pubmed/21337117 0 0 "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10788 10788 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17976 male "" "" Caucasian "" 17976 Others 2024-02-28 16:05:48 UTC 21337117 http://rdf.ncbi.nlm.nih.gov/pubmed/21337117 0 0 "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/10788 10788 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_17976 male "" "" Caucasian "" 17976 Others 2024-02-28 16:05:48 UTC 21337117 http://rdf.ncbi.nlm.nih.gov/pubmed/21337117 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10487 10487 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17489 male "" "" African - Sub-Saharan "" 17489 Frontal face 2024-02-08 20:01:41 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10522 10522 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17528 male "" "" African - Sub-Saharan "" 17528 Frontal face 2024-02-09 20:10:23 UTC "" "" 0 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10530 10530 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17536 female "" "" African - Sub-Saharan "" 17536 Frontal face 2024-02-09 20:35:16 UTC "" "" 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10530 10530 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17536 female "" "" African - Sub-Saharan "" 17536 Frontal face 2024-02-09 20:35:16 UTC "" "" 0 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10531 10531 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17537 female "" "" African - Sub-Saharan "" 17537 Frontal face 2024-02-09 20:36:16 UTC "" "" 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/10531 10531 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_17537 female "" "" African - Sub-Saharan "" 17537 Frontal face 2024-02-09 20:36:16 UTC "" "" 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/10544 10544 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_17550 female "" "" African - Sub-Saharan "" 17550 Frontal face 2024-02-09 21:01:02 UTC "" "" 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/10545 10545 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_17551 female "" "" African - Sub-Saharan "" 17551 Frontal face 2024-02-09 21:02:43 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10739 10739 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17918 male "" "" African - Sub-Saharan "" 17918 Frontal face 2024-02-26 10:52:40 UTC "" "" 4 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10742 10742 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17921 male "" "" African - Sub-Saharan "" 17921 Frontal face 2024-02-26 10:55:48 UTC "" "" 7 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10744 10744 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17922 female "" "" African - Sub-Saharan "" 17922 Frontal face 2024-02-26 10:57:02 UTC "" "" 8 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/10745 10745 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_17923 male "" "" African - Sub-Saharan "" 17923 Frontal face 2024-02-26 10:57:51 UTC "" "" 5 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/10974 10974 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_18334 female "" "" "" "" 18334 Frontal face 2024-03-14 16:09:01 UTC "" "" 5 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/10974 10974 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_18335 female "" "" "" "" 18335 Frontal face 2024-03-14 16:09:25 UTC "" "" 5 0 "" NANDO:2201350 MONDO:0007987 OMIM:156550 https://db.gestaltmatcher.org/patients/11387 11387 KNIEST DYSPLASIA https://db.gestaltmatcher.org/patients/image_19240 male COL2A1 http://identifiers.org/ncbigene/1280 American - Latin/Hispanic Mayan population 19240 Frontal face 2024-04-23 05:05:44 UTC "" "" 14 4 Picture from 6 years old NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1130 1130 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1450 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian guessed by Merle ten Hagen 1450 Frontal face 2023-07-06 18:30:40 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 7 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1131 1131 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1451 male MAGEL2 http://identifiers.org/ncbigene/54551 Asian guessed by Merle ten Hagen 1451 Frontal face 2023-07-06 18:34:20 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 14 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1132 1132 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1452 female MAGEL2 http://identifiers.org/ncbigene/54551 European guessed by Merle ten Hagen 1452 Frontal face 2023-07-06 18:37:56 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 15 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/11079 11079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_18553 female KMT2A http://identifiers.org/ncbigene/4297 Asian - West/Middle Eastern Aachen 18553 Frontal face 2024-03-21 22:17:45 UTC "" "" 4 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/11079 11079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_18554 female KMT2A http://identifiers.org/ncbigene/4297 Asian - West/Middle Eastern Aachen 18554 Frontal face 2024-03-21 22:22:16 UTC "" "" 1 3 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/11079 11079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_18555 female KMT2A http://identifiers.org/ncbigene/4297 Asian - West/Middle Eastern Aachen 18555 Profile 2024-03-21 22:22:55 UTC "" "" 1 1 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/11079 11079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_18556 female KMT2A http://identifiers.org/ncbigene/4297 Asian - West/Middle Eastern Aachen 18556 Frontal face 2024-03-21 22:23:49 UTC "" "" 1 1 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18608 female FMR1 http://identifiers.org/ncbigene/2332 European Aachen 18608 Frontal face 2024-06-05 07:14:21 UTC "" "" 27 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18608 female FMR1 http://identifiers.org/ncbigene/2332 European Aachen 18608 Frontal face 2024-06-05 07:14:21 UTC "" "" 27 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18608 female KDM6A http://identifiers.org/ncbigene/7403 European Aachen 18608 Frontal face 2024-06-05 07:14:21 UTC "" "" 27 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18608 female KDM6A http://identifiers.org/ncbigene/7403 European Aachen 18608 Frontal face 2024-06-05 07:14:21 UTC "" "" 27 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18611 female FMR1 http://identifiers.org/ncbigene/2332 European Aachen 18611 Profile 2024-06-05 07:14:35 UTC "" "" 27 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18611 female FMR1 http://identifiers.org/ncbigene/2332 European Aachen 18611 Profile 2024-06-05 07:14:35 UTC "" "" 27 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18611 female KDM6A http://identifiers.org/ncbigene/7403 European Aachen 18611 Profile 2024-06-05 07:14:35 UTC "" "" 27 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18611 female KDM6A http://identifiers.org/ncbigene/7403 European Aachen 18611 Profile 2024-06-05 07:14:35 UTC "" "" 27 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/11224 11224 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_18842 female NF1 http://identifiers.org/ncbigene/4763 American - Latin/Hispanic Mexican 18842 Frontal face 2024-03-31 22:39:31 UTC "" "" 6 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/11224 11224 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_18842 female NF1 http://identifiers.org/ncbigene/4763 American - Latin/Hispanic Mexican 18842 Frontal face 2024-03-31 22:39:31 UTC "" "" 6 0 "" NANDO:2201393 MONDO:0010417 OMIM:300749 https://db.gestaltmatcher.org/patients/11225 11225 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA https://db.gestaltmatcher.org/patients/image_18843 female CASK http://identifiers.org/ncbigene/8573 American - Latin/Hispanic Brazilian 18843 Frontal face 2024-04-01 05:01:10 UTC "" "" 7 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11229 11229 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18847 male CDKN1C http://identifiers.org/ncbigene/1028 American - Latin/Hispanic Mexican 18847 Frontal face 2024-04-01 05:43:35 UTC "" "" 7 2 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18989 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18989 Frontal face 2024-04-05 08:44:35 UTC "" "" 4 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18989 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18989 Frontal face 2024-04-05 08:44:35 UTC "" "" 4 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18990 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18990 Frontal face 2024-04-05 08:44:49 UTC "" "" 4 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18990 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18990 Frontal face 2024-04-05 08:44:49 UTC "" "" 4 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18991 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18991 Others 2024-04-05 08:45:03 UTC "" "" 4 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18991 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18991 Others 2024-04-05 08:45:03 UTC "" "" 4 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18992 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18992 Others 2024-04-05 08:45:18 UTC "" "" 4 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18992 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18992 Others 2024-04-05 08:45:18 UTC "" "" 4 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18993 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18993 Others 2024-04-05 08:45:33 UTC "" "" 4 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18993 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18993 Others 2024-04-05 08:45:33 UTC "" "" 4 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18994 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18994 Others 2024-04-05 08:48:46 UTC "" "" 4 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18994 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18994 Others 2024-04-05 08:48:46 UTC "" "" 4 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18995 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18995 Others 2024-04-05 08:48:16 UTC "" "" 4 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18995 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18995 Others 2024-04-05 08:48:16 UTC "" "" 4 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18996 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18996 Others 2024-04-05 08:50:30 UTC "" "" 4 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18996 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18996 Others 2024-04-05 08:50:30 UTC "" "" 4 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18998 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18998 Others 2024-04-05 08:55:08 UTC "" "" 4 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11278 11278 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18998 male FMR1 http://identifiers.org/ncbigene/2332 Asian Chinese 18998 Others 2024-04-05 08:55:08 UTC "" "" 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19000 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19000 Frontal face 2024-04-05 09:01:52 UTC "" "" 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19000 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19000 Frontal face 2024-04-05 09:01:52 UTC "" "" 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19001 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19001 Others 2024-04-05 09:03:56 UTC "" "" 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19001 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19001 Others 2024-04-05 09:03:56 UTC "" "" 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19002 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19002 Others 2024-04-05 09:06:54 UTC "" "" 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19002 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19002 Others 2024-04-05 09:06:54 UTC "" "" 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19003 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19003 Frontal face 2024-04-05 09:10:08 UTC "" "" 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19003 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19003 Frontal face 2024-04-05 09:10:08 UTC "" "" 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19004 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19004 Frontal face 2024-04-05 09:10:50 UTC "" "" 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19004 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19004 Frontal face 2024-04-05 09:10:50 UTC "" "" 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19005 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19005 Others 2024-04-05 09:11:25 UTC "" "" 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19005 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19005 Others 2024-04-05 09:11:25 UTC "" "" 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19006 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19006 Others 2024-04-05 09:12:39 UTC "" "" 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19006 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19006 Others 2024-04-05 09:12:39 UTC "" "" 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19007 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19007 Others 2024-04-05 09:13:24 UTC "" "" 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19007 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19007 Others 2024-04-05 09:13:24 UTC "" "" 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19008 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19008 Others 2024-04-05 09:14:01 UTC "" "" 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11279 11279 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_19008 female ELN http://identifiers.org/ncbigene/2006 Asian Chinese 19008 Others 2024-04-05 09:14:01 UTC "" "" 4 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19009 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19009 Frontal face 2024-04-05 09:17:52 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19009 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19009 Frontal face 2024-04-05 09:17:52 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19009 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19009 Frontal face 2024-04-05 09:17:52 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19010 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19010 Others 2024-04-05 09:20:24 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19010 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19010 Others 2024-04-05 09:20:24 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19010 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19010 Others 2024-04-05 09:20:24 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19011 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19011 Others 2024-04-05 09:20:56 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19011 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19011 Others 2024-04-05 09:20:56 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19011 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19011 Others 2024-04-05 09:20:56 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19012 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19012 Others 2024-04-05 09:21:24 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19012 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19012 Others 2024-04-05 09:21:24 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19012 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19012 Others 2024-04-05 09:21:24 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19013 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19013 Others 2024-04-05 09:21:59 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19013 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19013 Others 2024-04-05 09:21:59 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19013 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19013 Others 2024-04-05 09:21:59 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19014 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19014 Others 2024-04-05 09:22:38 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19014 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19014 Others 2024-04-05 09:22:38 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19014 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19014 Others 2024-04-05 09:22:38 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19015 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19015 Others 2024-04-05 09:23:08 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19015 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19015 Others 2024-04-05 09:23:08 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19015 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19015 Others 2024-04-05 09:23:08 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19016 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19016 Others 2024-04-05 09:23:31 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19016 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19016 Others 2024-04-05 09:23:31 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19016 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19016 Others 2024-04-05 09:23:31 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19017 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19017 Others 2024-04-05 09:24:10 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19017 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19017 Others 2024-04-05 09:24:10 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19017 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19017 Others 2024-04-05 09:24:10 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19018 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19018 Others 2024-04-05 09:25:40 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19018 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19018 Others 2024-04-05 09:25:40 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19018 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19018 Others 2024-04-05 09:25:40 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19019 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19019 Others 2024-04-05 09:26:11 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19019 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19019 Others 2024-04-05 09:26:11 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19019 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19019 Others 2024-04-05 09:26:11 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19020 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19020 Others 2024-04-05 09:26:40 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19020 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19020 Others 2024-04-05 09:26:40 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19020 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19020 Others 2024-04-05 09:26:40 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19021 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19021 Others 2024-04-05 09:28:22 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19021 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19021 Others 2024-04-05 09:28:22 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19021 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19021 Others 2024-04-05 09:28:22 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19022 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19022 Others 2024-04-05 09:29:07 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19022 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19022 Others 2024-04-05 09:29:07 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19022 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19022 Others 2024-04-05 09:29:07 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19023 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19023 Limbs 2024-04-05 09:29:39 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19023 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19023 Limbs 2024-04-05 09:29:39 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19023 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19023 Limbs 2024-04-05 09:29:39 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19024 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19024 Others 2024-04-05 09:30:05 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19024 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19024 Others 2024-04-05 09:30:05 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19024 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19024 Others 2024-04-05 09:30:05 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19025 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19025 Others 2024-04-05 09:30:32 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19025 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19025 Others 2024-04-05 09:30:32 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19025 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19025 Others 2024-04-05 09:30:32 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19026 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19026 Others 2024-04-05 09:33:01 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19026 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19026 Others 2024-04-05 09:33:01 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19026 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19026 Others 2024-04-05 09:33:01 UTC "" "" 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19027 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19027 Others 2024-04-05 09:35:35 UTC "" "" 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19027 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19027 Others 2024-04-05 09:35:35 UTC "" "" 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/11280 11280 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_19027 male FBN1 http://identifiers.org/ncbigene/2200 Asian Chinese 19027 Others 2024-04-05 09:35:35 UTC "" "" 14 0 "" NANDO:1200991 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/11277 11277 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_19071 male TAZ http://identifiers.org/ncbigene/6901 Jewish - Sephardi Mother (morocco/French/egypt) Father (morocco/Libya) 19071 Frontal face 2024-04-05 18:47:06 UTC "" "" 1 3 "" NANDO:2200751 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/11277 11277 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_19071 male TAZ http://identifiers.org/ncbigene/6901 Jewish - Sephardi Mother (morocco/French/egypt) Father (morocco/Libya) 19071 Frontal face 2024-04-05 18:47:06 UTC "" "" 1 3 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_19132 female FMR1 http://identifiers.org/ncbigene/2332 European Aachen 19132 Frontal face 2024-04-09 15:14:39 UTC "" "" 27 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_19132 female FMR1 http://identifiers.org/ncbigene/2332 European Aachen 19132 Frontal face 2024-04-09 15:14:39 UTC "" "" 27 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_19132 female KDM6A http://identifiers.org/ncbigene/7403 European Aachen 19132 Frontal face 2024-04-09 15:14:39 UTC "" "" 27 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11116 11116 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_19132 female KDM6A http://identifiers.org/ncbigene/7403 European Aachen 19132 Frontal face 2024-04-09 15:14:39 UTC "" "" 27 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/11079 11079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_20546 female KMT2A http://identifiers.org/ncbigene/4297 Asian - West/Middle Eastern Aachen 20546 Frontal face 2024-08-08 12:13:57 UTC "" "" 12 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1122 1122 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1442 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1442 Frontal face 2023-07-06 15:14:29 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 15 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1123 1123 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1443 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1443 Frontal face 2023-07-06 15:14:56 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 6 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1124 1124 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1444 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1444 Frontal face 2023-07-06 15:23:01 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 10 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1125 1125 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1445 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1445 Frontal face 2023-07-06 15:23:48 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 1 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1126 1126 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1446 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1446 Frontal face 2023-07-06 18:07:55 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 10 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1127 1127 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1447 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1447 Frontal face 2023-07-06 18:12:19 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 1 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1128 1128 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1448 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1448 Frontal face 2023-07-06 18:23:14 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 10 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1129 1129 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1449 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1449 Frontal face 2023-07-06 18:26:04 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 14 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1133 1133 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1453 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1453 Frontal face 2023-07-06 18:41:53 UTC 27195816 http://rdf.ncbi.nlm.nih.gov/pubmed/27195816 20 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1134 1134 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1454 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1454 Frontal face 2022-02-25 16:42:56 UTC 24076603 http://rdf.ncbi.nlm.nih.gov/pubmed/24076603 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1134 1134 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1455 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1455 Frontal face 2023-07-06 18:51:22 UTC 24076603 http://rdf.ncbi.nlm.nih.gov/pubmed/24076603 13 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1135 1135 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1456 male MAGEL2 http://identifiers.org/ncbigene/54551 American - Latin/Hispanic "" 1456 Frontal face 2023-07-06 19:12:02 UTC 24076603 http://rdf.ncbi.nlm.nih.gov/pubmed/24076603 8 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1136 1136 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1457 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1457 Frontal face 2023-07-06 19:12:23 UTC 24076603 http://rdf.ncbi.nlm.nih.gov/pubmed/24076603 5 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1137 1137 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1458 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1458 Frontal face 2022-02-25 16:43:03 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 3 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1137 1137 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1459 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1459 Frontal face 2022-02-25 16:43:06 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 5 6 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1137 1137 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1460 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1460 Frontal face 2022-02-25 16:43:07 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 11 6 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1137 1137 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1461 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1461 Frontal face 2022-02-25 16:43:09 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 28 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1137 1137 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1462 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1462 Others 2021-04-14 12:11:42 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 28 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1137 1137 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1463 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1463 Profile 2021-04-14 12:11:42 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 28 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1138 1138 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1464 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1464 Frontal face 2022-02-25 16:43:11 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 2 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1138 1138 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1465 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1465 Frontal face 2022-02-25 16:43:13 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 11 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1138 1138 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1466 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1466 Frontal face 2022-02-25 16:43:14 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 18 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1138 1138 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1467 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1467 Others 2021-04-14 12:11:42 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 18 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1139 1139 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1468 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1468 Frontal face 2022-02-25 16:43:17 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 5 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1139 1139 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1469 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1469 Frontal face 2022-02-25 16:43:18 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 10 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1139 1139 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1470 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1470 Frontal face 2022-02-25 16:43:21 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 18 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1139 1139 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1471 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1471 Others 2021-04-14 12:11:42 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 18 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1139 1139 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1472 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1472 Profile 2021-04-14 12:11:42 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 18 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1140 1140 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1473 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1473 Profile 2021-04-14 12:11:42 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 9 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1140 1140 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1474 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1474 Frontal face 2022-02-25 16:43:22 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 9 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1140 1140 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1475 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1475 Frontal face 2022-02-25 16:43:24 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 34 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/1140 1140 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_1476 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 1476 Others 2021-04-14 12:11:42 UTC 33076953 http://rdf.ncbi.nlm.nih.gov/pubmed/33076953 34 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11028 11028 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18453 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 18453 Frontal face 2024-03-19 20:12:22 UTC 29109840 http://rdf.ncbi.nlm.nih.gov/pubmed/29109840 8 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11028 11028 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18453 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 18453 Frontal face 2024-03-19 20:12:22 UTC 29109840 http://rdf.ncbi.nlm.nih.gov/pubmed/29109840 8 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11028 11028 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18454 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 18454 Profile 2024-03-30 15:09:38 UTC 29109840 http://rdf.ncbi.nlm.nih.gov/pubmed/29109840 8 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11028 11028 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18454 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 18454 Profile 2024-03-30 15:09:38 UTC 29109840 http://rdf.ncbi.nlm.nih.gov/pubmed/29109840 8 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11029 11029 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18455 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 18455 Frontal face 2024-03-19 20:14:55 UTC 29109840 http://rdf.ncbi.nlm.nih.gov/pubmed/29109840 8 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11029 11029 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18455 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 18455 Frontal face 2024-03-19 20:14:55 UTC 29109840 http://rdf.ncbi.nlm.nih.gov/pubmed/29109840 8 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11029 11029 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18456 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 18456 Frontal face 2024-03-19 20:15:06 UTC 29109840 http://rdf.ncbi.nlm.nih.gov/pubmed/29109840 8 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11029 11029 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18456 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 18456 Frontal face 2024-03-19 20:15:06 UTC 29109840 http://rdf.ncbi.nlm.nih.gov/pubmed/29109840 8 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11091 11091 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18575 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 European "" 18575 Frontal face 2024-03-24 11:48:40 UTC 37749604 http://rdf.ncbi.nlm.nih.gov/pubmed/37749604 0 3 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11091 11091 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18577 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 European "" 18577 Profile 2024-03-24 11:56:17 UTC 37749604 http://rdf.ncbi.nlm.nih.gov/pubmed/37749604 0 3 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11093 11093 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18578 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 European "" 18578 Frontal face 2024-03-24 12:08:03 UTC 37749604 http://rdf.ncbi.nlm.nih.gov/pubmed/37749604 0 3 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11200 11200 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_18799 unknown ELN http://identifiers.org/ncbigene/2006 European - Southern "" 18799 Profile 2024-03-29 12:43:38 UTC 36263864 http://rdf.ncbi.nlm.nih.gov/pubmed/36263864 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11200 11200 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_18799 unknown ELN http://identifiers.org/ncbigene/2006 European - Southern "" 18799 Profile 2024-03-29 12:43:38 UTC 36263864 http://rdf.ncbi.nlm.nih.gov/pubmed/36263864 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11200 11200 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_18800 unknown ELN http://identifiers.org/ncbigene/2006 European - Southern "" 18800 Frontal face 2024-03-29 12:43:15 UTC 36263864 http://rdf.ncbi.nlm.nih.gov/pubmed/36263864 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/11200 11200 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_18800 unknown ELN http://identifiers.org/ncbigene/2006 European - Southern "" 18800 Frontal face 2024-03-29 12:43:15 UTC 36263864 http://rdf.ncbi.nlm.nih.gov/pubmed/36263864 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11214 11214 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18821 female H19 http://identifiers.org/ncbigene/283120 Caucasian "" 18821 Frontal face 2024-03-29 18:55:55 UTC 23239666 http://rdf.ncbi.nlm.nih.gov/pubmed/23239666 13 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11214 11214 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18822 female H19 http://identifiers.org/ncbigene/283120 Caucasian "" 18822 Others 2024-03-29 18:56:08 UTC 23239666 http://rdf.ncbi.nlm.nih.gov/pubmed/23239666 13 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/11123 11123 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_18636 female HRAS http://identifiers.org/ncbigene/3265 African - Sub-Saharan "" 18636 Frontal face 2024-03-25 14:53:58 UTC "" "" 3 3 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/11123 11123 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_18636 female HRAS http://identifiers.org/ncbigene/3265 African - Sub-Saharan "" 18636 Frontal face 2024-03-25 14:53:58 UTC "" "" 3 3 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/11137 11137 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_18649 male NSD2 http://identifiers.org/ncbigene/7468 European "" 18649 Frontal face 2024-03-26 11:04:12 UTC "" "" 2 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/11137 11137 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_18649 male NSD2 http://identifiers.org/ncbigene/7468 European "" 18649 Frontal face 2024-03-26 11:04:12 UTC "" "" 2 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11197 11197 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18793 male CDKN1C http://identifiers.org/ncbigene/1028 European - Southern "" 18793 Profile 2024-03-29 10:01:18 UTC "" "" 1 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11197 11197 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18794 male CDKN1C http://identifiers.org/ncbigene/1028 European - Southern "" 18794 Frontal face 2024-03-29 09:58:32 UTC "" "" 1 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11256 11256 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18947 male FMR1 http://identifiers.org/ncbigene/2332 African - Sub-Saharan "" 18947 Frontal face 2024-04-03 12:36:03 UTC "" "" 9 3 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11256 11256 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18947 male FMR1 http://identifiers.org/ncbigene/2332 African - Sub-Saharan "" 18947 Frontal face 2024-04-03 12:36:03 UTC "" "" 9 3 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11257 11257 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18948 male FMR1 http://identifiers.org/ncbigene/2332 African - Sub-Saharan "" 18948 Frontal face 2024-04-03 12:37:57 UTC "" "" 1 4 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11257 11257 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18948 male FMR1 http://identifiers.org/ncbigene/2332 African - Sub-Saharan "" 18948 Frontal face 2024-04-03 12:37:57 UTC "" "" 1 4 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/11312 11312 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_19144 male ZEB2 http://identifiers.org/ncbigene/9839 European - Southern "" 19144 Frontal face 2024-04-11 08:57:31 UTC "" "" 3 5 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/11312 11312 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_19144 male ZEB2 http://identifiers.org/ncbigene/9839 European - Southern "" 19144 Frontal face 2024-04-11 08:57:31 UTC "" "" 3 5 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/11332 11332 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_19180 male KMT2A http://identifiers.org/ncbigene/4297 Asian - West/Middle Eastern "" 19180 Frontal face 2024-04-11 21:07:17 UTC "" "" 2 9 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/11332 11332 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_19181 male KMT2A http://identifiers.org/ncbigene/4297 Asian - West/Middle Eastern "" 19181 Frontal face 2024-04-11 21:06:57 UTC "" "" 0 0 "" NANDO:2201026 MONDO:0007363 OMIM:121050 https://db.gestaltmatcher.org/patients/11371 11371 CONTRACTURAL ARACHNODACTYLY, CONGENITAL https://db.gestaltmatcher.org/patients/image_19221 female SMARCC2 http://identifiers.org/ncbigene/6601 Arab "" 19221 Frontal face 2024-04-18 06:47:57 UTC "" "" 2 9 "" NANDO:2201026 MONDO:0007363 OMIM:121050 https://db.gestaltmatcher.org/patients/11371 11371 CONTRACTURAL ARACHNODACTYLY, CONGENITAL https://db.gestaltmatcher.org/patients/image_19221 female FBN2 http://identifiers.org/ncbigene/2201 Arab "" 19221 Frontal face 2024-04-18 06:47:57 UTC "" "" 2 9 "" NANDO:2201026 MONDO:0007363 OMIM:121050 https://db.gestaltmatcher.org/patients/11371 11371 CONTRACTURAL ARACHNODACTYLY, CONGENITAL https://db.gestaltmatcher.org/patients/image_19222 female FBN2 http://identifiers.org/ncbigene/2201 Arab "" 19222 Profile 2024-04-18 06:48:19 UTC "" "" 2 9 "" NANDO:2201026 MONDO:0007363 OMIM:121050 https://db.gestaltmatcher.org/patients/11371 11371 CONTRACTURAL ARACHNODACTYLY, CONGENITAL https://db.gestaltmatcher.org/patients/image_19222 female SMARCC2 http://identifiers.org/ncbigene/6601 Arab "" 19222 Profile 2024-04-18 06:48:19 UTC "" "" 2 9 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/11123 11123 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_19223 female HRAS http://identifiers.org/ncbigene/3265 African - Sub-Saharan "" 19223 Frontal face 2024-06-06 12:04:26 UTC "" "" 7 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/11123 11123 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_19223 female HRAS http://identifiers.org/ncbigene/3265 African - Sub-Saharan "" 19223 Frontal face 2024-06-06 12:04:26 UTC "" "" 7 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11031 11031 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18459 male USB1 http://identifiers.org/ncbigene/79650 "" "" 18459 Frontal face 2024-03-20 09:22:48 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 31 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11031 11031 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18460 male USB1 http://identifiers.org/ncbigene/79650 "" "" 18460 Profile 2024-03-20 09:22:58 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 31 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11031 11031 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18461 male USB1 http://identifiers.org/ncbigene/79650 "" "" 18461 Limbs 2024-03-20 09:23:46 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 31 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11031 11031 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18462 male USB1 http://identifiers.org/ncbigene/79650 "" "" 18462 Limbs 2024-03-20 09:24:17 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 31 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11032 11032 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18463 female USB1 http://identifiers.org/ncbigene/79650 "" "" 18463 Frontal face 2024-03-20 09:31:12 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 24 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11032 11032 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18464 female USB1 http://identifiers.org/ncbigene/79650 "" "" 18464 Profile 2024-03-20 09:31:28 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 24 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11032 11032 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18465 female USB1 http://identifiers.org/ncbigene/79650 "" "" 18465 Limbs 2024-03-20 09:31:54 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 24 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11032 11032 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18466 female USB1 http://identifiers.org/ncbigene/79650 "" "" 18466 Others 2024-03-20 09:32:24 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 24 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11033 11033 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18467 female USB1 http://identifiers.org/ncbigene/79650 "" "" 18467 Frontal face 2024-03-20 09:43:32 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 22 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11033 11033 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18468 female USB1 http://identifiers.org/ncbigene/79650 "" "" 18468 Profile 2024-03-20 09:43:43 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 22 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11033 11033 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18469 female USB1 http://identifiers.org/ncbigene/79650 "" "" 18469 Limbs 2024-03-20 09:46:49 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 22 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/11033 11033 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_18470 female USB1 http://identifiers.org/ncbigene/79650 "" "" 18470 Others 2024-03-20 09:47:10 UTC 29753917 http://rdf.ncbi.nlm.nih.gov/pubmed/29753917 22 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11036 11036 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18474 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18474 Frontal face 2024-03-20 11:00:51 UTC 9678703 http://rdf.ncbi.nlm.nih.gov/pubmed/9678703 19 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11036 11036 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18474 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18474 Frontal face 2024-03-20 11:00:51 UTC 9678703 http://rdf.ncbi.nlm.nih.gov/pubmed/9678703 19 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11037 11037 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18475 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18475 Frontal face 2024-03-20 11:01:41 UTC 9678703 http://rdf.ncbi.nlm.nih.gov/pubmed/9678703 23 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11037 11037 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18475 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18475 Frontal face 2024-03-20 11:01:41 UTC 9678703 http://rdf.ncbi.nlm.nih.gov/pubmed/9678703 23 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11038 11038 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18476 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18476 Frontal face 2024-03-20 11:03:05 UTC 9678703 http://rdf.ncbi.nlm.nih.gov/pubmed/9678703 10 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11038 11038 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18476 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18476 Frontal face 2024-03-20 11:03:05 UTC 9678703 http://rdf.ncbi.nlm.nih.gov/pubmed/9678703 10 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11040 11040 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18479 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18479 Frontal face 2024-03-20 11:08:29 UTC 37664646 http://rdf.ncbi.nlm.nih.gov/pubmed/37664646 13 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11040 11040 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18479 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18479 Frontal face 2024-03-20 11:08:29 UTC 37664646 http://rdf.ncbi.nlm.nih.gov/pubmed/37664646 13 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11040 11040 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18480 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18480 Frontal face 2024-03-20 11:08:49 UTC 37664646 http://rdf.ncbi.nlm.nih.gov/pubmed/37664646 6 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11040 11040 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18480 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18480 Frontal face 2024-03-20 11:08:49 UTC 37664646 http://rdf.ncbi.nlm.nih.gov/pubmed/37664646 6 0 "" NANDO:2201026 MONDO:0007363 OMIM:121050 https://db.gestaltmatcher.org/patients/11144 11144 CONTRACTURAL ARACHNODACTYLY, CONGENITAL https://db.gestaltmatcher.org/patients/image_18658 female FBN2 http://identifiers.org/ncbigene/2201 "" "" 18658 Frontal face 2024-03-26 20:15:15 UTC 10797416 http://rdf.ncbi.nlm.nih.gov/pubmed/10797416 3 0 "" NANDO:2201026 MONDO:0007363 OMIM:121050 https://db.gestaltmatcher.org/patients/11144 11144 CONTRACTURAL ARACHNODACTYLY, CONGENITAL https://db.gestaltmatcher.org/patients/image_18659 female FBN2 http://identifiers.org/ncbigene/2201 "" "" 18659 Frontal face 2024-03-26 20:16:01 UTC 10797416 http://rdf.ncbi.nlm.nih.gov/pubmed/10797416 8 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11148 11148 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18666 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18666 Frontal face 2024-03-27 09:41:53 UTC 29259781 http://rdf.ncbi.nlm.nih.gov/pubmed/29259781 7 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11148 11148 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18666 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18666 Frontal face 2024-03-27 09:41:53 UTC 29259781 http://rdf.ncbi.nlm.nih.gov/pubmed/29259781 7 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11148 11148 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18667 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18667 Others 2024-03-27 09:42:04 UTC 29259781 http://rdf.ncbi.nlm.nih.gov/pubmed/29259781 7 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11148 11148 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18667 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18667 Others 2024-03-27 09:42:04 UTC 29259781 http://rdf.ncbi.nlm.nih.gov/pubmed/29259781 7 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11158 11158 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18687 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18687 Frontal face 2024-03-27 12:30:06 UTC 28617938 http://rdf.ncbi.nlm.nih.gov/pubmed/28617938 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11158 11158 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18687 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 18687 Frontal face 2024-03-27 12:30:06 UTC 28617938 http://rdf.ncbi.nlm.nih.gov/pubmed/28617938 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11159 11159 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18688 female FMR1 http://identifiers.org/ncbigene/2332 "" "" 18688 Frontal face 2024-03-27 12:30:39 UTC 28617938 http://rdf.ncbi.nlm.nih.gov/pubmed/28617938 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11159 11159 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18688 female FMR1 http://identifiers.org/ncbigene/2332 "" "" 18688 Frontal face 2024-03-27 12:30:39 UTC 28617938 http://rdf.ncbi.nlm.nih.gov/pubmed/28617938 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11204 11204 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18807 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18807 Frontal face 2024-03-29 17:01:57 UTC 22615066 http://rdf.ncbi.nlm.nih.gov/pubmed/22615066 0 6 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11204 11204 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18808 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18808 Frontal face 2024-03-29 17:02:38 UTC 22615066 http://rdf.ncbi.nlm.nih.gov/pubmed/22615066 1 7 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11204 11204 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18809 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18809 Frontal face 2024-03-29 17:03:01 UTC 22615066 http://rdf.ncbi.nlm.nih.gov/pubmed/22615066 10 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11205 11205 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18810 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18810 Profile 2024-03-29 17:09:31 UTC 22615066 http://rdf.ncbi.nlm.nih.gov/pubmed/22615066 0 3 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11205 11205 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18811 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18811 Frontal face 2024-03-29 17:09:52 UTC 22615066 http://rdf.ncbi.nlm.nih.gov/pubmed/22615066 0 3 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11205 11205 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18812 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18812 Others 2024-03-29 17:10:00 UTC 22615066 http://rdf.ncbi.nlm.nih.gov/pubmed/22615066 0 3 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11205 11205 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18813 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18813 Others 2024-03-29 17:10:19 UTC 22615066 http://rdf.ncbi.nlm.nih.gov/pubmed/22615066 0 3 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11206 11206 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18814 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18814 Frontal face 2024-03-29 17:38:36 UTC 28699632 http://rdf.ncbi.nlm.nih.gov/pubmed/28699632 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11207 11207 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18815 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18815 Frontal face 2024-03-29 17:41:56 UTC 28699632 http://rdf.ncbi.nlm.nih.gov/pubmed/28699632 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11208 11208 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18816 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18816 Frontal face 2024-03-29 17:44:40 UTC 28699632 http://rdf.ncbi.nlm.nih.gov/pubmed/28699632 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11209 11209 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18817 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18817 Frontal face 2024-03-29 18:09:04 UTC 18000906 http://rdf.ncbi.nlm.nih.gov/pubmed/18000906 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11209 11209 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18818 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18818 Others 2024-03-29 18:09:21 UTC 18000906 http://rdf.ncbi.nlm.nih.gov/pubmed/18000906 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11210 11210 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18819 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 "" "" 18819 Profile 2024-03-29 18:14:44 UTC 18000906 http://rdf.ncbi.nlm.nih.gov/pubmed/18000906 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11216 11216 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18825 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 18825 Frontal face 2024-03-29 21:25:06 UTC 33404724 http://rdf.ncbi.nlm.nih.gov/pubmed/33404724 0 6 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11216 11216 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18825 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 18825 Frontal face 2024-03-29 21:25:06 UTC 33404724 http://rdf.ncbi.nlm.nih.gov/pubmed/33404724 0 6 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11216 11216 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18826 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 18826 Profile 2024-03-29 21:25:19 UTC 33404724 http://rdf.ncbi.nlm.nih.gov/pubmed/33404724 0 6 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11216 11216 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18826 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 18826 Profile 2024-03-29 21:25:19 UTC 33404724 http://rdf.ncbi.nlm.nih.gov/pubmed/33404724 0 6 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11216 11216 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18827 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 18827 Frontal face 2024-03-29 21:25:36 UTC 33404724 http://rdf.ncbi.nlm.nih.gov/pubmed/33404724 0 11 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11216 11216 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18827 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 18827 Frontal face 2024-03-29 21:25:36 UTC 33404724 http://rdf.ncbi.nlm.nih.gov/pubmed/33404724 0 11 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11216 11216 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18828 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 18828 Profile 2024-03-29 21:25:47 UTC 33404724 http://rdf.ncbi.nlm.nih.gov/pubmed/33404724 0 11 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11216 11216 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18828 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 18828 Profile 2024-03-29 21:25:47 UTC 33404724 http://rdf.ncbi.nlm.nih.gov/pubmed/33404724 0 11 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/11429 11429 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_19303 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 19303 Frontal face 2024-05-01 18:45:39 UTC 33204589 http://rdf.ncbi.nlm.nih.gov/pubmed/33204589 0 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/11429 11429 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_19303 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 19303 Frontal face 2024-05-01 18:45:39 UTC 33204589 http://rdf.ncbi.nlm.nih.gov/pubmed/33204589 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11012 11012 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18414 female "" "" American - African/Black Jamaican 18414 Frontal face 2024-03-19 16:04:59 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 47 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11012 11012 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18414 female "" "" American - African/Black Jamaican 18414 Frontal face 2024-03-19 16:04:59 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 47 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11012 11012 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18415 female "" "" American - African/Black Jamaican 18415 Profile 2024-03-19 16:05:11 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 47 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11012 11012 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18415 female "" "" American - African/Black Jamaican 18415 Profile 2024-03-19 16:05:11 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 47 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11012 11012 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18416 female "" "" American - African/Black Jamaican 18416 Others 2024-03-19 16:05:27 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 47 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11012 11012 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18416 female "" "" American - African/Black Jamaican 18416 Others 2024-03-19 16:05:27 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 47 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11013 11013 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18417 female "" "" American - African/Black Jamaican 18417 Frontal face 2024-03-19 16:09:01 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 9 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11013 11013 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18417 female "" "" American - African/Black Jamaican 18417 Frontal face 2024-03-19 16:09:01 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 9 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11013 11013 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18418 female "" "" American - African/Black Jamaican 18418 Profile 2024-03-19 16:09:07 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 9 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11013 11013 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18418 female "" "" American - African/Black Jamaican 18418 Profile 2024-03-19 16:09:07 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 9 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11013 11013 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18419 female "" "" American - African/Black Jamaican 18419 Others 2024-03-19 16:09:22 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 9 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11013 11013 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18419 female "" "" American - African/Black Jamaican 18419 Others 2024-03-19 16:09:22 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 9 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11014 11014 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18420 female "" "" American - African/Black Jamaican 18420 Frontal face 2024-03-19 16:13:53 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 17 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11014 11014 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18420 female "" "" American - African/Black Jamaican 18420 Frontal face 2024-03-19 16:13:53 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 17 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11014 11014 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18421 female "" "" American - African/Black Jamaican 18421 Profile 2024-03-19 16:14:10 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 17 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11014 11014 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18421 female "" "" American - African/Black Jamaican 18421 Profile 2024-03-19 16:14:10 UTC 34745790 http://rdf.ncbi.nlm.nih.gov/pubmed/34745790 17 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11020 11020 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18431 male "" "" Arab Saudi-Arabian 18431 Frontal face 2024-03-19 16:30:07 UTC 30351293 http://rdf.ncbi.nlm.nih.gov/pubmed/30351293 0 10 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11020 11020 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18431 male "" "" Arab Saudi-Arabian 18431 Frontal face 2024-03-19 16:30:07 UTC 30351293 http://rdf.ncbi.nlm.nih.gov/pubmed/30351293 0 10 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11026 11026 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18446 female "" "" Arab Iranian 18446 Frontal face 2024-03-19 19:55:41 UTC 32351741 http://rdf.ncbi.nlm.nih.gov/pubmed/32351741 26 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11026 11026 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18446 female "" "" Arab Iranian 18446 Frontal face 2024-03-19 19:55:41 UTC 32351741 http://rdf.ncbi.nlm.nih.gov/pubmed/32351741 26 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11026 11026 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18447 female "" "" Arab Iranian 18447 Frontal face 2024-03-19 19:55:55 UTC 32351741 http://rdf.ncbi.nlm.nih.gov/pubmed/32351741 26 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11026 11026 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18447 female "" "" Arab Iranian 18447 Frontal face 2024-03-19 19:55:55 UTC 32351741 http://rdf.ncbi.nlm.nih.gov/pubmed/32351741 26 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11026 11026 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18448 female "" "" Arab Iranian 18448 Profile 2024-03-19 19:56:39 UTC 32351741 http://rdf.ncbi.nlm.nih.gov/pubmed/32351741 26 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11026 11026 CROUZON SYNDROME 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http://rdf.ncbi.nlm.nih.gov/pubmed/32349794 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11260 11260 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18951 female "" "" Asian - East Japanese 18951 Frontal face 2024-04-03 15:28:48 UTC 1377724 http://rdf.ncbi.nlm.nih.gov/pubmed/1377724 11 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11260 11260 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18951 female "" "" Asian - East Japanese 18951 Frontal face 2024-04-03 15:28:48 UTC 1377724 http://rdf.ncbi.nlm.nih.gov/pubmed/1377724 11 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11298 11298 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_19074 male "" "" Asian - South/Indian Indian 19074 Frontal face 2024-04-06 09:30:11 UTC 25206185 http://rdf.ncbi.nlm.nih.gov/pubmed/25206185 11 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11298 11298 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_19074 male "" "" Asian - South/Indian Indian 19074 Frontal face 2024-04-06 09:30:11 UTC 25206185 http://rdf.ncbi.nlm.nih.gov/pubmed/25206185 11 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11298 11298 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_19075 male "" "" Asian - South/Indian Indian 19075 Profile 2024-04-06 09:30:18 UTC 25206185 http://rdf.ncbi.nlm.nih.gov/pubmed/25206185 11 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11298 11298 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_19075 male "" "" Asian - South/Indian Indian 19075 Profile 2024-04-06 09:30:18 UTC 25206185 http://rdf.ncbi.nlm.nih.gov/pubmed/25206185 11 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/11228 11228 MOEBIUS SYNDROME; MBS 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https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19040 male "" "" Asian MALAY 19040 Others 2024-04-05 09:55:34 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19040 male "" "" Asian MALAY 19040 Others 2024-04-05 09:55:34 UTC "" "" 11 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19041 male "" "" Asian MALAY 19041 Others 2024-04-05 09:55:53 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19041 male "" "" Asian MALAY 19041 Others 2024-04-05 09:55:53 UTC "" "" 11 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19042 male "" "" Asian MALAY 19042 Limbs 2024-04-05 09:56:12 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19042 male "" "" Asian MALAY 19042 Limbs 2024-04-05 09:56:12 UTC "" "" 11 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19043 male "" "" Asian MALAY 19043 Others 2024-04-05 09:56:31 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19043 male "" "" Asian MALAY 19043 Others 2024-04-05 09:56:31 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME 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https://db.gestaltmatcher.org/patients/image_19046 male "" "" Asian MALAY 19046 Others 2024-04-05 09:59:41 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19046 male "" "" Asian MALAY 19046 Others 2024-04-05 09:59:41 UTC "" "" 11 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19047 male "" "" Asian MALAY 19047 Others 2024-04-05 10:00:11 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19047 male "" "" Asian MALAY 19047 Others 2024-04-05 10:00:11 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19048 male "" "" Asian MALAY 19048 Others 2024-04-05 10:00:46 UTC "" "" 11 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19048 male "" "" Asian MALAY 19048 Others 2024-04-05 10:00:46 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19049 male "" "" Asian MALAY 19049 Others 2024-04-05 10:01:15 UTC "" "" 11 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19049 male "" "" Asian MALAY 19049 Others 2024-04-05 10:01:15 UTC "" "" 11 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19050 male "" "" Asian MALAY 19050 Limbs 2024-04-05 10:02:07 UTC "" "" 11 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/11282 11282 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_19050 male "" "" Asian MALAY 19050 Limbs 2024-04-05 10:02:07 UTC "" "" 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/112 112 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_141 female "" "" "" USA 141 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/112 112 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_141 female "" "" "" USA 141 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/113 113 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_142 male "" "" "" USA 142 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 5 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/113 113 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_142 male "" "" "" USA 142 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/114 114 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_143 female "" "" "" USA 143 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/114 114 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_143 female "" "" "" USA 143 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11011 11011 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18411 male "" "" European - Eastern "" 18411 Frontal face 2024-03-19 15:56:35 UTC 27200233 http://rdf.ncbi.nlm.nih.gov/pubmed/27200233 17 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11011 11011 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18411 male "" "" European - Eastern "" 18411 Frontal face 2024-03-19 15:56:35 UTC 27200233 http://rdf.ncbi.nlm.nih.gov/pubmed/27200233 17 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11011 11011 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18412 male "" "" European - Eastern "" 18412 Profile 2024-03-19 15:56:42 UTC 27200233 http://rdf.ncbi.nlm.nih.gov/pubmed/27200233 17 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11011 11011 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18412 male "" "" European - Eastern "" 18412 Profile 2024-03-19 15:56:42 UTC 27200233 http://rdf.ncbi.nlm.nih.gov/pubmed/27200233 17 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11011 11011 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18413 male "" "" European - Eastern "" 18413 Others 2024-03-19 15:56:59 UTC 27200233 http://rdf.ncbi.nlm.nih.gov/pubmed/27200233 17 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11011 11011 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18413 male "" "" European - Eastern "" 18413 Others 2024-03-19 15:56:59 UTC 27200233 http://rdf.ncbi.nlm.nih.gov/pubmed/27200233 17 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11016 11016 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18423 unknown "" "" European "" 18423 Frontal face 2024-03-19 16:22:16 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11016 11016 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18423 unknown "" "" European "" 18423 Frontal face 2024-03-19 16:22:16 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11016 11016 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18424 unknown "" "" European "" 18424 Profile 2024-03-19 16:22:20 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11016 11016 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18424 unknown "" "" European "" 18424 Profile 2024-03-19 16:22:20 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11017 11017 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18425 male "" "" European "" 18425 Frontal face 2024-03-19 16:23:09 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11017 11017 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18425 male "" "" European "" 18425 Frontal face 2024-03-19 16:23:09 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11017 11017 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18426 male "" "" European "" 18426 Profile 2024-03-19 16:23:18 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11017 11017 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18426 male "" "" European "" 18426 Profile 2024-03-19 16:23:18 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11018 11018 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18427 female "" "" European "" 18427 Frontal face 2024-03-19 16:24:13 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11018 11018 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18427 female "" "" European "" 18427 Frontal face 2024-03-19 16:24:13 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11018 11018 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18428 female "" "" European "" 18428 Profile 2024-03-19 16:24:23 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11018 11018 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18428 female "" "" European "" 18428 Profile 2024-03-19 16:24:23 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11019 11019 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18429 male "" "" European "" 18429 Frontal face 2024-03-19 16:25:00 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11019 11019 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18429 male "" "" European "" 18429 Frontal face 2024-03-19 16:25:00 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11019 11019 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18430 male "" "" European "" 18430 Profile 2024-03-19 16:25:17 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11019 11019 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18430 male "" "" European "" 18430 Profile 2024-03-19 16:25:17 UTC 34745859 http://rdf.ncbi.nlm.nih.gov/pubmed/34745859 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11021 11021 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18432 male "" "" American - African/Black "" 18432 Frontal face 2024-03-19 16:34:38 UTC 26080162 http://rdf.ncbi.nlm.nih.gov/pubmed/26080162 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11021 11021 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18432 male "" "" American - African/Black "" 18432 Frontal face 2024-03-19 16:34:38 UTC 26080162 http://rdf.ncbi.nlm.nih.gov/pubmed/26080162 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11021 11021 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18433 male "" "" American - African/Black "" 18433 Profile 2024-03-19 16:34:51 UTC 26080162 http://rdf.ncbi.nlm.nih.gov/pubmed/26080162 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11021 11021 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18433 male "" "" American - African/Black "" 18433 Profile 2024-03-19 16:34:51 UTC 26080162 http://rdf.ncbi.nlm.nih.gov/pubmed/26080162 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11027 11027 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18450 male "" "" Asian - South/Indian "" 18450 Frontal face 2024-03-19 20:02:38 UTC 25096652 http://rdf.ncbi.nlm.nih.gov/pubmed/25096652 20 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11027 11027 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18450 male "" "" Asian - South/Indian "" 18450 Frontal face 2024-03-19 20:02:38 UTC 25096652 http://rdf.ncbi.nlm.nih.gov/pubmed/25096652 20 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11027 11027 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18451 male "" "" Asian - South/Indian "" 18451 Profile 2024-03-19 20:03:00 UTC 25096652 http://rdf.ncbi.nlm.nih.gov/pubmed/25096652 20 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11027 11027 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18451 male "" "" Asian - South/Indian "" 18451 Profile 2024-03-19 20:03:00 UTC 25096652 http://rdf.ncbi.nlm.nih.gov/pubmed/25096652 20 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11027 11027 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18452 male "" "" Asian - South/Indian "" 18452 Profile 2024-03-19 20:03:23 UTC 25096652 http://rdf.ncbi.nlm.nih.gov/pubmed/25096652 20 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11027 11027 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18452 male "" "" Asian - South/Indian "" 18452 Profile 2024-03-19 20:03:23 UTC 25096652 http://rdf.ncbi.nlm.nih.gov/pubmed/25096652 20 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11094 11094 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18579 male "" "" Arab "" 18579 Frontal face 2024-03-24 12:21:25 UTC 34257987 http://rdf.ncbi.nlm.nih.gov/pubmed/34257987 1 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11094 11094 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18580 male "" "" Arab "" 18580 Frontal face 2024-03-24 12:21:37 UTC 34257987 http://rdf.ncbi.nlm.nih.gov/pubmed/34257987 2 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11232 11232 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18849 male "" "" African "" 18849 Frontal face 2024-04-01 09:57:45 UTC 26283152 http://rdf.ncbi.nlm.nih.gov/pubmed/26283152 0 5 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11232 11232 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18849 male "" "" African "" 18849 Frontal face 2024-04-01 09:57:45 UTC 26283152 http://rdf.ncbi.nlm.nih.gov/pubmed/26283152 0 5 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11232 11232 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18850 male "" "" African "" 18850 Others 2024-04-01 09:57:58 UTC 26283152 http://rdf.ncbi.nlm.nih.gov/pubmed/26283152 0 5 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11232 11232 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18850 male "" "" African "" 18850 Others 2024-04-01 09:57:58 UTC 26283152 http://rdf.ncbi.nlm.nih.gov/pubmed/26283152 0 5 "" NANDO:2200529 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/11039 11039 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_18477 unknown "" "" Caucasian "" 18477 Frontal face 2024-03-20 11:04:45 UTC "" "" 60 9 "" NANDO:1201064 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/11039 11039 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_18477 unknown "" "" Caucasian "" 18477 Frontal face 2024-03-20 11:04:45 UTC "" "" 60 9 "" NANDO:1201064 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/11039 11039 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_18478 unknown "" "" Caucasian "" 18478 Consent 2024-03-20 11:05:47 UTC "" "" 0 0 "" NANDO:2200529 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/11039 11039 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_18478 unknown "" "" Caucasian "" 18478 Consent 2024-03-20 11:05:47 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/11374 11374 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_19227 male "" "" African - Sub-Saharan "" 19227 Frontal face 2024-04-18 15:18:43 UTC "" "" 0 3 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/11375 11375 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_19228 female "" "" African - Sub-Saharan "" 19228 Frontal face 2024-04-18 15:21:47 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/11395 11395 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_19257 male "" "" African - Sub-Saharan "" 19257 Frontal face 2024-04-24 18:07:05 UTC "" "" 8 0 "" NANDO:1201064 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/11451 11451 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_19319 unknown "" "" European "" 19319 Frontal face 2024-05-06 09:22:27 UTC "" "" 25 0 "" NANDO:2200529 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/11451 11451 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_19319 unknown "" "" European "" 19319 Frontal face 2024-05-06 09:22:27 UTC "" "" 25 0 "" NANDO:2200529 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/11451 11451 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_19320 unknown "" "" European "" 19320 Consent 2024-05-06 09:22:36 UTC "" "" 0 0 "" NANDO:1201064 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/11451 11451 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_19320 unknown "" "" European "" 19320 Consent 2024-05-06 09:22:36 UTC "" "" 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11261 11261 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18954 female "" "" "" "" 18954 Frontal face 2024-04-03 15:45:02 UTC 31934979 http://rdf.ncbi.nlm.nih.gov/pubmed/31934979 20 0 after surgery NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11261 11261 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18954 female "" "" "" "" 18954 Frontal face 2024-04-03 15:45:02 UTC 31934979 http://rdf.ncbi.nlm.nih.gov/pubmed/31934979 20 0 after surgery NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11261 11261 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18955 female "" "" "" "" 18955 Profile 2024-04-03 15:45:23 UTC 31934979 http://rdf.ncbi.nlm.nih.gov/pubmed/31934979 20 0 after surgery NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11261 11261 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18955 female "" "" "" "" 18955 Profile 2024-04-03 15:45:23 UTC 31934979 http://rdf.ncbi.nlm.nih.gov/pubmed/31934979 20 0 after surgery NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11015 11015 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18422 female "" "" "" "" 18422 Frontal face 2024-03-19 16:17:05 UTC 21887190 http://rdf.ncbi.nlm.nih.gov/pubmed/21887190 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11015 11015 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18422 female "" "" "" "" 18422 Frontal face 2024-03-19 16:17:05 UTC 21887190 http://rdf.ncbi.nlm.nih.gov/pubmed/21887190 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11022 11022 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18434 male "" "" "" "" 18434 Frontal face 2024-03-19 16:38:21 UTC 23633933 http://rdf.ncbi.nlm.nih.gov/pubmed/23633933 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11022 11022 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18434 male "" "" "" "" 18434 Frontal face 2024-03-19 16:38:21 UTC 23633933 http://rdf.ncbi.nlm.nih.gov/pubmed/23633933 6 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11022 11022 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18435 male "" "" "" "" 18435 Profile 2024-03-30 15:04:12 UTC 23633933 http://rdf.ncbi.nlm.nih.gov/pubmed/23633933 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11022 11022 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18435 male "" "" "" "" 18435 Profile 2024-03-30 15:04:12 UTC 23633933 http://rdf.ncbi.nlm.nih.gov/pubmed/23633933 6 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11022 11022 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18436 male "" "" "" "" 18436 Others 2024-03-19 16:38:48 UTC 23633933 http://rdf.ncbi.nlm.nih.gov/pubmed/23633933 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11022 11022 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18436 male "" "" "" "" 18436 Others 2024-03-19 16:38:48 UTC 23633933 http://rdf.ncbi.nlm.nih.gov/pubmed/23633933 6 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11022 11022 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18437 male "" "" "" "" 18437 Others 2024-03-19 16:39:04 UTC 23633933 http://rdf.ncbi.nlm.nih.gov/pubmed/23633933 6 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11022 11022 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18437 male "" "" "" "" 18437 Others 2024-03-19 16:39:04 UTC 23633933 http://rdf.ncbi.nlm.nih.gov/pubmed/23633933 6 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11095 11095 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18581 male "" "" "" "" 18581 Frontal face 2024-03-24 13:07:40 UTC 25686896 http://rdf.ncbi.nlm.nih.gov/pubmed/25686896 1 6 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11113 11113 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18604 unknown "" "" "" "" 18604 Profile 2024-03-24 15:56:35 UTC 30057238 http://rdf.ncbi.nlm.nih.gov/pubmed/30057238 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11114 11114 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18605 unknown "" "" "" "" 18605 Profile 2024-03-24 15:57:18 UTC 30057238 http://rdf.ncbi.nlm.nih.gov/pubmed/30057238 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11115 11115 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18606 unknown "" "" "" "" 18606 Profile 2024-03-24 15:57:49 UTC 30057238 http://rdf.ncbi.nlm.nih.gov/pubmed/30057238 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11149 11149 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18668 male "" "" "" "" 18668 Frontal face 2024-03-27 10:04:07 UTC 27672537 http://rdf.ncbi.nlm.nih.gov/pubmed/27672537 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11149 11149 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18668 male "" "" "" "" 18668 Frontal face 2024-03-27 10:04:07 UTC 27672537 http://rdf.ncbi.nlm.nih.gov/pubmed/27672537 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11150 11150 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18669 male "" "" "" "" 18669 Frontal face 2024-03-27 10:14:04 UTC 35216055 http://rdf.ncbi.nlm.nih.gov/pubmed/35216055 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11150 11150 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18669 male "" "" "" "" 18669 Frontal face 2024-03-27 10:14:04 UTC 35216055 http://rdf.ncbi.nlm.nih.gov/pubmed/35216055 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11151 11151 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18670 male "" "" "" "" 18670 Frontal face 2024-03-27 10:25:22 UTC 35216055 http://rdf.ncbi.nlm.nih.gov/pubmed/35216055 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11151 11151 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18670 male "" "" "" "" 18670 Frontal face 2024-03-27 10:25:22 UTC 35216055 http://rdf.ncbi.nlm.nih.gov/pubmed/35216055 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11152 11152 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18671 male "" "" "" "" 18671 Frontal face 2024-03-27 10:26:25 UTC 35216055 http://rdf.ncbi.nlm.nih.gov/pubmed/35216055 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11152 11152 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18671 male "" "" "" "" 18671 Frontal face 2024-03-27 10:26:25 UTC 35216055 http://rdf.ncbi.nlm.nih.gov/pubmed/35216055 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11153 11153 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18672 male "" "" "" "" 18672 Frontal face 2024-03-27 10:27:38 UTC 35216055 http://rdf.ncbi.nlm.nih.gov/pubmed/35216055 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/11153 11153 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_18672 male "" "" "" "" 18672 Frontal face 2024-03-27 10:27:38 UTC 35216055 http://rdf.ncbi.nlm.nih.gov/pubmed/35216055 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11160 11160 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18689 unknown "" "" "" "" 18689 Frontal face 2024-03-27 12:43:40 UTC 32417109 http://rdf.ncbi.nlm.nih.gov/pubmed/32417109 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11161 11161 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18690 female "" "" "" "" 18690 Frontal face 2024-03-27 13:58:05 UTC 9524461 http://rdf.ncbi.nlm.nih.gov/pubmed/9524461 4 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11162 11162 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18691 female "" "" "" "" 18691 Frontal face 2024-03-27 14:16:15 UTC 2038600 http://rdf.ncbi.nlm.nih.gov/pubmed/2038600 8 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11198 11198 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18795 male "" "" "" "" 18795 Frontal face 2024-03-29 10:38:01 UTC 19550435 http://rdf.ncbi.nlm.nih.gov/pubmed/19550435 0 1 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11198 11198 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18796 male "" "" "" "" 18796 Frontal face 2024-03-29 10:38:35 UTC 19550435 http://rdf.ncbi.nlm.nih.gov/pubmed/19550435 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11163 11163 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18803 female "" "" "" "" 18803 Profile 2024-03-29 15:01:53 UTC 2038600 http://rdf.ncbi.nlm.nih.gov/pubmed/2038600 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11202 11202 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18804 female "" "" "" "" 18804 Frontal face 2024-03-29 15:17:17 UTC 8827075 http://rdf.ncbi.nlm.nih.gov/pubmed/8827075 0 1 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11202 11202 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18805 female "" "" "" "" 18805 Frontal face 2024-03-29 15:17:31 UTC 8827075 http://rdf.ncbi.nlm.nih.gov/pubmed/8827075 4 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11203 11203 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18806 female "" "" "" "" 18806 Frontal face 2024-03-29 16:05:43 UTC 8589707 http://rdf.ncbi.nlm.nih.gov/pubmed/8589707 1 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11233 11233 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18851 unknown "" "" "" "" 18851 Profile 2024-04-01 10:08:51 UTC 23571469 http://rdf.ncbi.nlm.nih.gov/pubmed/23571469 16 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11233 11233 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18851 unknown "" "" "" "" 18851 Profile 2024-04-01 10:08:51 UTC 23571469 http://rdf.ncbi.nlm.nih.gov/pubmed/23571469 16 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11261 11261 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18952 female "" "" "" "" 18952 Frontal face 2024-04-03 15:44:22 UTC 31934979 http://rdf.ncbi.nlm.nih.gov/pubmed/31934979 20 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11261 11261 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18952 female "" "" "" "" 18952 Frontal face 2024-04-03 15:44:22 UTC 31934979 http://rdf.ncbi.nlm.nih.gov/pubmed/31934979 20 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11261 11261 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18953 female "" "" "" "" 18953 Profile 2024-04-03 15:44:30 UTC 31934979 http://rdf.ncbi.nlm.nih.gov/pubmed/31934979 20 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11261 11261 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_18953 female "" "" "" "" 18953 Profile 2024-04-03 15:44:30 UTC 31934979 http://rdf.ncbi.nlm.nih.gov/pubmed/31934979 20 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11299 11299 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_19076 male "" "" "" "" 19076 Frontal face 2024-04-06 09:36:52 UTC 28891490 http://rdf.ncbi.nlm.nih.gov/pubmed/28891490 3 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/11299 11299 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_19076 male "" "" "" "" 19076 Frontal face 2024-04-06 09:36:52 UTC 28891490 http://rdf.ncbi.nlm.nih.gov/pubmed/28891490 3 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/11112 11112 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_18603 unknown "" "" "" "" 18603 Frontal face 2024-03-24 14:59:05 UTC "" "" 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11649 11649 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19822 female NTRK1 http://identifiers.org/ncbigene/4914 European Czech, English, German 19822 Frontal face 2024-05-29 15:31:01 UTC 10330344 http://rdf.ncbi.nlm.nih.gov/pubmed/10330344 5 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11649 11649 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19822 female NTRK1 http://identifiers.org/ncbigene/4914 European Czech, English, German 19822 Frontal face 2024-05-29 15:31:01 UTC 10330344 http://rdf.ncbi.nlm.nih.gov/pubmed/10330344 5 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11649 11649 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19823 female NTRK1 http://identifiers.org/ncbigene/4914 European Czech, English, German 19823 Limbs 2024-05-29 15:31:10 UTC 10330344 http://rdf.ncbi.nlm.nih.gov/pubmed/10330344 5 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11649 11649 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19823 female NTRK1 http://identifiers.org/ncbigene/4914 European Czech, English, German 19823 Limbs 2024-05-29 15:31:10 UTC 10330344 http://rdf.ncbi.nlm.nih.gov/pubmed/10330344 5 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11649 11649 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19824 female NTRK1 http://identifiers.org/ncbigene/4914 European Czech, English, German 19824 Limbs 2024-05-29 15:31:24 UTC 10330344 http://rdf.ncbi.nlm.nih.gov/pubmed/10330344 5 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11649 11649 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19824 female NTRK1 http://identifiers.org/ncbigene/4914 European Czech, English, German 19824 Limbs 2024-05-29 15:31:24 UTC 10330344 http://rdf.ncbi.nlm.nih.gov/pubmed/10330344 5 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11650 11650 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19825 male NTRK1 http://identifiers.org/ncbigene/4914 European - Northwestern German/Swedish/Danish 19825 Frontal face 2024-05-30 11:07:43 UTC 12949319 http://rdf.ncbi.nlm.nih.gov/pubmed/12949319 2 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11650 11650 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19825 male NTRK1 http://identifiers.org/ncbigene/4914 European - Northwestern German/Swedish/Danish 19825 Frontal face 2024-05-30 11:07:43 UTC 12949319 http://rdf.ncbi.nlm.nih.gov/pubmed/12949319 2 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11650 11650 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19826 male NTRK1 http://identifiers.org/ncbigene/4914 European - Northwestern German/Swedish/Danish 19826 Others 2024-05-30 11:08:26 UTC 12949319 http://rdf.ncbi.nlm.nih.gov/pubmed/12949319 1 4 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11650 11650 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19826 male NTRK1 http://identifiers.org/ncbigene/4914 European - Northwestern German/Swedish/Danish 19826 Others 2024-05-30 11:08:26 UTC 12949319 http://rdf.ncbi.nlm.nih.gov/pubmed/12949319 1 4 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11650 11650 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19827 male NTRK1 http://identifiers.org/ncbigene/4914 European - Northwestern German/Swedish/Danish 19827 Limbs 2024-05-30 11:08:17 UTC 12949319 http://rdf.ncbi.nlm.nih.gov/pubmed/12949319 1 2 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11650 11650 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19827 male NTRK1 http://identifiers.org/ncbigene/4914 European - Northwestern German/Swedish/Danish 19827 Limbs 2024-05-30 11:08:17 UTC 12949319 http://rdf.ncbi.nlm.nih.gov/pubmed/12949319 1 2 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11650 11650 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19828 male NTRK1 http://identifiers.org/ncbigene/4914 European - Northwestern German/Swedish/Danish 19828 Limbs 2024-05-30 11:08:46 UTC 12949319 http://rdf.ncbi.nlm.nih.gov/pubmed/12949319 2 4 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11650 11650 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19828 male NTRK1 http://identifiers.org/ncbigene/4914 European - Northwestern German/Swedish/Danish 19828 Limbs 2024-05-30 11:08:46 UTC 12949319 http://rdf.ncbi.nlm.nih.gov/pubmed/12949319 2 4 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11651 11651 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19829 male NTRK1 http://identifiers.org/ncbigene/4914 European France 19829 Frontal face 2024-05-30 11:30:57 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 5 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11651 11651 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19829 male NTRK1 http://identifiers.org/ncbigene/4914 European France 19829 Frontal face 2024-05-30 11:30:57 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 5 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11651 11651 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19830 male NTRK1 http://identifiers.org/ncbigene/4914 European France 19830 Others 2024-05-30 11:31:07 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11651 11651 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19830 male NTRK1 http://identifiers.org/ncbigene/4914 European France 19830 Others 2024-05-30 11:31:07 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11651 11651 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19831 male NTRK1 http://identifiers.org/ncbigene/4914 European France 19831 Limbs 2024-05-30 11:31:19 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11651 11651 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19831 male NTRK1 http://identifiers.org/ncbigene/4914 European France 19831 Limbs 2024-05-30 11:31:19 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11653 11653 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19835 female NTRK1 http://identifiers.org/ncbigene/4914 African Suriname 19835 Frontal face 2024-05-30 12:38:09 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 6 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11653 11653 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19835 female NTRK1 http://identifiers.org/ncbigene/4914 African Suriname 19835 Frontal face 2024-05-30 12:38:09 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 6 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11653 11653 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19836 female NTRK1 http://identifiers.org/ncbigene/4914 African Suriname 19836 Limbs 2024-05-30 12:38:22 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11653 11653 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19836 female NTRK1 http://identifiers.org/ncbigene/4914 African Suriname 19836 Limbs 2024-05-30 12:38:22 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11653 11653 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19837 female NTRK1 http://identifiers.org/ncbigene/4914 African Suriname 19837 Limbs 2024-05-30 12:38:36 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11653 11653 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19837 female NTRK1 http://identifiers.org/ncbigene/4914 African Suriname 19837 Limbs 2024-05-30 12:38:36 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11654 11654 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19838 male NTRK1 http://identifiers.org/ncbigene/4914 African - North Algeria 19838 Frontal face 2024-05-30 12:47:23 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 6 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11654 11654 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19838 male NTRK1 http://identifiers.org/ncbigene/4914 African - North Algeria 19838 Frontal face 2024-05-30 12:47:23 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 6 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11654 11654 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19839 male NTRK1 http://identifiers.org/ncbigene/4914 African - North Algeria 19839 Limbs 2024-05-30 12:47:29 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11654 11654 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19839 male NTRK1 http://identifiers.org/ncbigene/4914 African - North Algeria 19839 Limbs 2024-05-30 12:47:29 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11654 11654 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19840 male NTRK1 http://identifiers.org/ncbigene/4914 African - North Algeria 19840 Limbs 2024-05-30 12:47:40 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11654 11654 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19840 male NTRK1 http://identifiers.org/ncbigene/4914 African - North Algeria 19840 Limbs 2024-05-30 12:47:40 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11675 11675 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19892 male NTRK1 http://identifiers.org/ncbigene/4914 Asian - West/Middle Eastern Iran 19892 Frontal face 2024-05-31 16:46:25 UTC 22957891 http://rdf.ncbi.nlm.nih.gov/pubmed/22957891 6 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11675 11675 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19892 male NTRK1 http://identifiers.org/ncbigene/4914 Asian - West/Middle Eastern Iran 19892 Frontal face 2024-05-31 16:46:25 UTC 22957891 http://rdf.ncbi.nlm.nih.gov/pubmed/22957891 6 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11675 11675 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19893 male NTRK1 http://identifiers.org/ncbigene/4914 Asian - West/Middle Eastern Iran 19893 Limbs 2024-05-31 16:46:55 UTC 22957891 http://rdf.ncbi.nlm.nih.gov/pubmed/22957891 6 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11675 11675 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19893 male NTRK1 http://identifiers.org/ncbigene/4914 Asian - West/Middle Eastern Iran 19893 Limbs 2024-05-31 16:46:55 UTC 22957891 http://rdf.ncbi.nlm.nih.gov/pubmed/22957891 6 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11675 11675 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19894 male NTRK1 http://identifiers.org/ncbigene/4914 Asian - West/Middle Eastern Iran 19894 Limbs 2024-05-31 16:47:11 UTC 22957891 http://rdf.ncbi.nlm.nih.gov/pubmed/22957891 6 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11675 11675 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19894 male NTRK1 http://identifiers.org/ncbigene/4914 Asian - West/Middle Eastern Iran 19894 Limbs 2024-05-31 16:47:11 UTC 22957891 http://rdf.ncbi.nlm.nih.gov/pubmed/22957891 6 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11869 11869 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20170 male NLRP3 http://identifiers.org/ncbigene/114548 European French 20170 Frontal face 2024-07-11 09:34:44 UTC 38514289 http://rdf.ncbi.nlm.nih.gov/pubmed/38514289 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11869 11869 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20170 male NLRP3 http://identifiers.org/ncbigene/114548 European French 20170 Frontal face 2024-07-11 09:34:44 UTC 38514289 http://rdf.ncbi.nlm.nih.gov/pubmed/38514289 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11873 11873 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20178 male NLRP3 http://identifiers.org/ncbigene/114548 American - Native Canadian 20178 Frontal face 2024-07-11 13:25:57 UTC 30772614 http://rdf.ncbi.nlm.nih.gov/pubmed/30772614 6 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11873 11873 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20178 male NLRP3 http://identifiers.org/ncbigene/114548 American - Native Canadian 20178 Frontal face 2024-07-11 13:25:57 UTC 30772614 http://rdf.ncbi.nlm.nih.gov/pubmed/30772614 6 0 "" NANDO:2201393 MONDO:0010417 OMIM:300749 https://db.gestaltmatcher.org/patients/11734 11734 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA https://db.gestaltmatcher.org/patients/image_19980 female CASK http://identifiers.org/ncbigene/8573 European White British 19980 Frontal face 2024-06-16 17:57:06 UTC "" "" 1 2 "" NANDO:2201393 MONDO:0010417 OMIM:300749 https://db.gestaltmatcher.org/patients/11734 11734 INTELLECTUAL DEVELOPMENTAL DISORDER WITH MICROCEPHALY AND PONTINE AND CEREBELLAR HYPOPLASIA https://db.gestaltmatcher.org/patients/image_19981 female CASK http://identifiers.org/ncbigene/8573 European White British 19981 Profile 2024-06-16 17:57:14 UTC "" "" 1 2 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19463 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19463 Frontal face 2024-05-14 20:45:00 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 bars in front of the eyes NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19463 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19463 Frontal face 2024-05-14 20:45:00 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 bars in front of the eyes NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19464 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19464 Profile 2024-05-14 20:45:09 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 bars in front of the eyes NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19464 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19464 Profile 2024-05-14 20:45:09 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 bars in front of the eyes NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19462 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19462 MRI 2024-05-14 20:45:29 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19462 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19462 MRI 2024-05-14 20:45:29 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19465 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19465 Others 2024-05-14 20:45:20 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19465 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19465 Others 2024-05-14 20:45:20 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19466 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19466 Others 2024-05-14 20:45:43 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19466 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19466 Others 2024-05-14 20:45:43 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19467 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19467 Others 2024-05-14 20:45:51 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/11497 11497 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_19467 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 19467 Others 2024-05-14 20:45:51 UTC 35495804 http://rdf.ncbi.nlm.nih.gov/pubmed/35495804 7 0 "" NANDO:1201059 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/11504 11504 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_19488 female RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 19488 Frontal face 2024-05-15 08:26:16 UTC 19291770 http://rdf.ncbi.nlm.nih.gov/pubmed/19291770 0 0 "" NANDO:2201530 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/11504 11504 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_19488 female RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 19488 Frontal face 2024-05-15 08:26:16 UTC 19291770 http://rdf.ncbi.nlm.nih.gov/pubmed/19291770 0 0 "" NANDO:1201059 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/11504 11504 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_19489 female RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 19489 Others 2024-05-15 08:26:23 UTC 19291770 http://rdf.ncbi.nlm.nih.gov/pubmed/19291770 0 0 "" NANDO:2201530 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/11504 11504 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_19489 female RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 19489 Others 2024-05-15 08:26:23 UTC 19291770 http://rdf.ncbi.nlm.nih.gov/pubmed/19291770 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11652 11652 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19832 male NTRK1 http://identifiers.org/ncbigene/4914 African "" 19832 Others 2024-05-30 12:30:06 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 3 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11652 11652 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19832 male NTRK1 http://identifiers.org/ncbigene/4914 African "" 19832 Others 2024-05-30 12:30:06 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 3 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11652 11652 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19833 male NTRK1 http://identifiers.org/ncbigene/4914 African "" 19833 Limbs 2024-05-30 12:30:37 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11652 11652 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19833 male NTRK1 http://identifiers.org/ncbigene/4914 African "" 19833 Limbs 2024-05-30 12:30:37 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11652 11652 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19834 male NTRK1 http://identifiers.org/ncbigene/4914 African "" 19834 Limbs 2024-05-30 12:30:49 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11652 11652 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19834 male NTRK1 http://identifiers.org/ncbigene/4914 African "" 19834 Limbs 2024-05-30 12:30:49 UTC 34405299 http://rdf.ncbi.nlm.nih.gov/pubmed/34405299 0 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11655 11655 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19841 female NTRK1 http://identifiers.org/ncbigene/4914 Asian "" 19841 Frontal face 2024-05-30 13:49:15 UTC 25316729 http://rdf.ncbi.nlm.nih.gov/pubmed/25316729 17 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11655 11655 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19841 female NTRK1 http://identifiers.org/ncbigene/4914 Asian "" 19841 Frontal face 2024-05-30 13:49:15 UTC 25316729 http://rdf.ncbi.nlm.nih.gov/pubmed/25316729 17 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11655 11655 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19842 female NTRK1 http://identifiers.org/ncbigene/4914 Asian "" 19842 Others 2024-05-30 13:49:46 UTC 25316729 http://rdf.ncbi.nlm.nih.gov/pubmed/25316729 17 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11655 11655 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19842 female NTRK1 http://identifiers.org/ncbigene/4914 Asian "" 19842 Others 2024-05-30 13:49:46 UTC 25316729 http://rdf.ncbi.nlm.nih.gov/pubmed/25316729 17 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11655 11655 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19843 female NTRK1 http://identifiers.org/ncbigene/4914 Asian "" 19843 Others 2024-05-30 13:50:07 UTC 25316729 http://rdf.ncbi.nlm.nih.gov/pubmed/25316729 17 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11655 11655 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19843 female NTRK1 http://identifiers.org/ncbigene/4914 Asian "" 19843 Others 2024-05-30 13:50:07 UTC 25316729 http://rdf.ncbi.nlm.nih.gov/pubmed/25316729 17 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19881 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19881 Others 2024-05-31 16:27:05 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19881 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19881 Others 2024-05-31 16:27:05 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19882 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19882 Limbs 2024-05-31 16:27:24 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19882 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19882 Limbs 2024-05-31 16:27:24 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19883 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19883 Others 2024-05-31 16:27:41 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19883 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19883 Others 2024-05-31 16:27:41 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19884 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19884 Others 2024-05-31 16:28:04 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19884 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19884 Others 2024-05-31 16:28:04 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19885 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19885 Others 2024-05-31 16:28:29 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19885 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19885 Others 2024-05-31 16:28:29 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19886 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19886 Others 2024-05-31 16:28:48 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19886 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19886 Others 2024-05-31 16:28:48 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19887 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19887 Others 2024-05-31 16:29:06 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19887 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19887 Others 2024-05-31 16:29:06 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19888 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19888 Others 2024-05-31 16:29:22 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19888 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19888 Others 2024-05-31 16:29:22 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19889 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19889 Others 2024-05-31 16:29:39 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19889 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19889 Others 2024-05-31 16:29:39 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19890 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19890 Others 2024-05-31 16:30:10 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19890 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19890 Others 2024-05-31 16:30:10 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19891 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19891 Others 2024-05-31 16:30:28 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11674 11674 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_19891 female NTRK1 http://identifiers.org/ncbigene/4914 Arab "" 19891 Others 2024-05-31 16:30:28 UTC 38058353 http://rdf.ncbi.nlm.nih.gov/pubmed/38058353 11 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/11641 11641 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_19803 female KMT2A http://identifiers.org/ncbigene/4297 European - Southern "" 19803 Frontal face 2024-05-24 15:55:39 UTC "" "" 18 0 "" NANDO:1200001 MONDO:0010735 OMIM:313200 https://db.gestaltmatcher.org/patients/11689 11689 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 https://db.gestaltmatcher.org/patients/image_19912 male AR http://identifiers.org/ncbigene/367 European - Northwestern "" 19912 Frontal face 2024-06-07 10:31:14 UTC "" "" 38 0 "" NANDO:1200001 MONDO:0010735 OMIM:313200 https://db.gestaltmatcher.org/patients/11689 11689 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 https://db.gestaltmatcher.org/patients/image_19913 male AR http://identifiers.org/ncbigene/367 European - Northwestern "" 19913 Consent 2024-06-07 10:31:36 UTC "" "" 0 0 "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/11692 11692 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_19918 male ATM http://identifiers.org/ncbigene/472 European - Eastern "" 19918 Frontal face 2024-06-07 10:48:36 UTC "" "" 44 0 "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/11692 11692 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_19918 male ATM http://identifiers.org/ncbigene/472 European - Eastern "" 19918 Frontal face 2024-06-07 10:48:36 UTC "" "" 44 0 "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/11692 11692 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_19919 male ATM http://identifiers.org/ncbigene/472 European - Eastern "" 19919 Consent 2024-06-07 10:49:37 UTC "" "" 0 0 "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/11692 11692 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_19919 male ATM http://identifiers.org/ncbigene/472 European - Eastern "" 19919 Consent 2024-06-07 10:49:37 UTC "" "" 0 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/11740 11740 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_19990 female PURA http://identifiers.org/ncbigene/5813 European - Eastern "" 19990 Frontal face 2024-11-26 10:27:23 UTC "" "" 2 6 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/11740 11740 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_19991 female PURA http://identifiers.org/ncbigene/5813 European - Eastern "" 19991 Profile 2024-11-26 10:27:32 UTC "" "" 2 6 "" NANDO:1200001 MONDO:0010735 OMIM:313200 https://db.gestaltmatcher.org/patients/11775 11775 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 https://db.gestaltmatcher.org/patients/image_20042 male AR http://identifiers.org/ncbigene/367 European - Southern "" 20042 Frontal face 2024-06-24 11:52:32 UTC "" "" 56 0 "" NANDO:1200001 MONDO:0010735 OMIM:313200 https://db.gestaltmatcher.org/patients/11775 11775 SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 https://db.gestaltmatcher.org/patients/image_20043 male AR http://identifiers.org/ncbigene/367 European - Southern "" 20043 Consent 2024-06-24 11:52:49 UTC "" "" 0 0 "" NANDO:2201010 MONDO:0007793 OMIM:146000 https://db.gestaltmatcher.org/patients/11885 11885 HYPOCHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20199 female FGFR3 http://identifiers.org/ncbigene/2261 Asian "" 20199 Hand X-ray 2024-07-14 15:07:15 UTC "" "" 2 4 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11892 11892 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20206 female FGFR3 http://identifiers.org/ncbigene/2261 Asian - South/Indian "" 20206 Hand X-ray 2024-07-14 16:07:14 UTC "" "" 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11892 11892 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20206 female FGFR3 http://identifiers.org/ncbigene/2261 Asian - South/Indian "" 20206 Hand X-ray 2024-07-14 16:07:14 UTC "" "" 0 0 "" NANDO:2200580 MONDO:0010651 OMIM:309400 https://db.gestaltmatcher.org/patients/11545 11545 MENKES DISEASE https://db.gestaltmatcher.org/patients/image_19585 male ATP7A http://identifiers.org/ncbigene/538 "" "" 19585 Frontal face 2024-05-19 15:18:01 UTC 8914740 http://rdf.ncbi.nlm.nih.gov/pubmed/8914740 13 0 "" NANDO:1200653 MONDO:0010651 OMIM:309400 https://db.gestaltmatcher.org/patients/11545 11545 MENKES DISEASE https://db.gestaltmatcher.org/patients/image_19585 male ATP7A http://identifiers.org/ncbigene/538 "" "" 19585 Frontal face 2024-05-19 15:18:01 UTC 8914740 http://rdf.ncbi.nlm.nih.gov/pubmed/8914740 13 0 "" NANDO:1200653 MONDO:0010651 OMIM:309400 https://db.gestaltmatcher.org/patients/11545 11545 MENKES DISEASE https://db.gestaltmatcher.org/patients/image_19586 male ATP7A http://identifiers.org/ncbigene/538 "" "" 19586 Frontal face 2024-05-19 15:18:15 UTC 8914740 http://rdf.ncbi.nlm.nih.gov/pubmed/8914740 0 5 "" NANDO:2200580 MONDO:0010651 OMIM:309400 https://db.gestaltmatcher.org/patients/11545 11545 MENKES DISEASE https://db.gestaltmatcher.org/patients/image_19586 male ATP7A http://identifiers.org/ncbigene/538 "" "" 19586 Frontal face 2024-05-19 15:18:15 UTC 8914740 http://rdf.ncbi.nlm.nih.gov/pubmed/8914740 0 5 "" NANDO:1200467 MONDO:0008633 OMIM:191900 https://db.gestaltmatcher.org/patients/11870 11870 MUCKLE-WELLS SYNDROME https://db.gestaltmatcher.org/patients/image_20171 male NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20171 Others 2024-07-11 10:00:41 UTC 22891689 http://rdf.ncbi.nlm.nih.gov/pubmed/22891689 0 9 "" NANDO:2201067 MONDO:0008633 OMIM:191900 https://db.gestaltmatcher.org/patients/11870 11870 MUCKLE-WELLS SYNDROME https://db.gestaltmatcher.org/patients/image_20171 male NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20171 Others 2024-07-11 10:00:41 UTC 22891689 http://rdf.ncbi.nlm.nih.gov/pubmed/22891689 0 9 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11872 11872 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20174 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20174 Frontal face 2024-07-11 12:59:01 UTC 31858722 http://rdf.ncbi.nlm.nih.gov/pubmed/31858722 10 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11872 11872 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20174 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20174 Frontal face 2024-07-11 12:59:01 UTC 31858722 http://rdf.ncbi.nlm.nih.gov/pubmed/31858722 10 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11872 11872 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20175 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20175 Limbs 2024-07-11 12:59:07 UTC 31858722 http://rdf.ncbi.nlm.nih.gov/pubmed/31858722 10 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11872 11872 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20175 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20175 Limbs 2024-07-11 12:59:07 UTC 31858722 http://rdf.ncbi.nlm.nih.gov/pubmed/31858722 10 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11872 11872 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20176 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20176 Limbs 2024-07-11 12:59:14 UTC 31858722 http://rdf.ncbi.nlm.nih.gov/pubmed/31858722 10 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11872 11872 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20176 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20176 Limbs 2024-07-11 12:59:14 UTC 31858722 http://rdf.ncbi.nlm.nih.gov/pubmed/31858722 10 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11872 11872 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20177 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20177 Limbs 2024-07-11 12:59:20 UTC 31858722 http://rdf.ncbi.nlm.nih.gov/pubmed/31858722 10 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11872 11872 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20177 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20177 Limbs 2024-07-11 12:59:20 UTC 31858722 http://rdf.ncbi.nlm.nih.gov/pubmed/31858722 10 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11876 11876 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20182 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20182 Frontal face 2024-07-13 18:36:47 UTC 12032915 http://rdf.ncbi.nlm.nih.gov/pubmed/12032915 12 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11876 11876 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20182 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20182 Frontal face 2024-07-13 18:36:47 UTC 12032915 http://rdf.ncbi.nlm.nih.gov/pubmed/12032915 12 0 "" NANDO:1200467 MONDO:0008633 OMIM:191900 https://db.gestaltmatcher.org/patients/11870 11870 MUCKLE-WELLS SYNDROME https://db.gestaltmatcher.org/patients/image_20184 male NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20184 Frontal face 2024-07-13 19:02:28 UTC 22891689 http://rdf.ncbi.nlm.nih.gov/pubmed/22891689 0 0 "" NANDO:2201067 MONDO:0008633 OMIM:191900 https://db.gestaltmatcher.org/patients/11870 11870 MUCKLE-WELLS SYNDROME https://db.gestaltmatcher.org/patients/image_20184 male NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20184 Frontal face 2024-07-13 19:02:28 UTC 22891689 http://rdf.ncbi.nlm.nih.gov/pubmed/22891689 0 0 "" NANDO:2201010 MONDO:0007793 OMIM:146000 https://db.gestaltmatcher.org/patients/11886 11886 HYPOCHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20200 unknown FGFR3 http://identifiers.org/ncbigene/2261 "" "" 20200 Hand X-ray 2024-07-14 15:26:23 UTC 11297088 http://rdf.ncbi.nlm.nih.gov/pubmed/11297088 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11898 11898 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20212 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20212 Frontal face 2024-07-14 17:16:09 UTC 25584041 http://rdf.ncbi.nlm.nih.gov/pubmed/25584041 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11898 11898 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20212 female NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20212 Frontal face 2024-07-14 17:16:09 UTC 25584041 http://rdf.ncbi.nlm.nih.gov/pubmed/25584041 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/11725 11725 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_19968 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 19968 Frontal face 2024-06-10 21:02:06 UTC "" "" 2 1 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11874 11874 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20180 male NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20180 Frontal face 2024-07-13 18:18:43 UTC "" "" 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11874 11874 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20180 male NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20180 Frontal face 2024-07-13 18:18:43 UTC "" "" 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11875 11875 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20181 unknown NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20181 Frontal face 2024-07-13 18:30:36 UTC "" "" 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11875 11875 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20181 unknown NLRP3 http://identifiers.org/ncbigene/114548 "" "" 20181 Frontal face 2024-07-13 18:30:36 UTC "" "" 0 0 "" NANDO:1201063 MONDO:0007097 OMIM:105120 https://db.gestaltmatcher.org/patients/11532 11532 AMYLOIDOSIS, FINNISH TYPE https://db.gestaltmatcher.org/patients/image_19553 male "" "" European Finnish 19553 Frontal face 2024-05-19 11:57:06 UTC 15727635 http://rdf.ncbi.nlm.nih.gov/pubmed/15727635 79 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/115 115 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_144 female "" "" "" USA 144 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/115 115 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_144 female "" "" "" USA 144 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/117 117 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_146 male "" "" "" USA 146 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/117 117 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_146 male "" "" "" USA 146 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/117 117 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_147 male "" "" "" USA 147 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/117 117 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_147 male "" "" "" USA 147 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/118 118 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_148 female "" "" "" USA 148 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/118 118 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_148 female "" "" "" USA 148 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/119 119 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_149 female "" "" "" Argentinian 149 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 4 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/119 119 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_149 female "" "" "" Argentinian 149 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 4 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/11498 11498 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_19468 male "" "" Caucasian "" 19468 Frontal face 2024-05-14 20:57:05 UTC 35929060 http://rdf.ncbi.nlm.nih.gov/pubmed/35929060 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/11498 11498 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_19468 male "" "" Caucasian "" 19468 Frontal face 2024-05-14 20:57:05 UTC 35929060 http://rdf.ncbi.nlm.nih.gov/pubmed/35929060 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/11890 11890 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20204 female "" "" Caucasian "" 20204 Hand X-ray 2024-07-14 15:51:28 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 9 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/11891 11891 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20205 unknown "" "" Unknown "" 20205 Hand X-ray 2024-07-14 15:57:28 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/11505 11505 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_19490 male "" "" African - Sub-Saharan, European "" 19490 Frontal face 2024-05-15 10:06:12 UTC "" "" 1 2 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/11505 11505 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_19490 male "" "" African - Sub-Saharan, European "" 19490 Frontal face 2024-05-15 10:06:12 UTC "" "" 1 2 "" NANDO:1200553 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11795 11795 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_20080 unknown "" "" Unknown "" 20080 Others 2024-06-26 14:24:04 UTC "" "" 0 0 "" NANDO:2200854 MONDO:0009746 OMIM:256800 https://db.gestaltmatcher.org/patients/11795 11795 INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS https://db.gestaltmatcher.org/patients/image_20080 unknown "" "" Unknown "" 20080 Others 2024-06-26 14:24:04 UTC "" "" 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11893 11893 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20207 unknown "" "" "" "" 20207 Hand X-ray 2024-07-14 16:09:17 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11893 11893 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20207 unknown "" "" "" "" 20207 Hand X-ray 2024-07-14 16:09:17 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11894 11894 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20208 unknown "" "" "" "" 20208 Hand X-ray 2024-07-14 16:13:17 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11894 11894 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20208 unknown "" "" "" "" 20208 Hand X-ray 2024-07-14 16:13:17 UTC 1 http://rdf.ncbi.nlm.nih.gov/pubmed/1 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11895 11895 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20209 unknown "" "" "" "" 20209 Hand X-ray 2024-07-14 16:17:50 UTC 20130852 http://rdf.ncbi.nlm.nih.gov/pubmed/20130852 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11895 11895 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20209 unknown "" "" "" "" 20209 Hand X-ray 2024-07-14 16:17:50 UTC 20130852 http://rdf.ncbi.nlm.nih.gov/pubmed/20130852 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11897 11897 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20211 unknown "" "" "" "" 20211 Hand X-ray 2024-07-14 16:27:55 UTC 2 http://rdf.ncbi.nlm.nih.gov/pubmed/2 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11897 11897 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20211 unknown "" "" "" "" 20211 Hand X-ray 2024-07-14 16:27:55 UTC 2 http://rdf.ncbi.nlm.nih.gov/pubmed/2 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11899 11899 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20213 male "" "" "" "" 20213 Frontal face 2024-07-14 17:40:39 UTC 18351446 http://rdf.ncbi.nlm.nih.gov/pubmed/18351446 8 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11899 11899 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20213 male "" "" "" "" 20213 Frontal face 2024-07-14 17:40:39 UTC 18351446 http://rdf.ncbi.nlm.nih.gov/pubmed/18351446 8 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11899 11899 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20214 male "" "" "" "" 20214 Others 2024-07-14 17:40:56 UTC 18351446 http://rdf.ncbi.nlm.nih.gov/pubmed/18351446 8 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11899 11899 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20214 male "" "" "" "" 20214 Others 2024-07-14 17:40:56 UTC 18351446 http://rdf.ncbi.nlm.nih.gov/pubmed/18351446 8 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11877 11877 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20183 unknown "" "" "" "" 20183 Frontal face 2024-07-13 18:54:17 UTC "" "" 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/11877 11877 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_20183 unknown "" "" "" "" 20183 Frontal face 2024-07-13 18:54:17 UTC "" "" 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11896 11896 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20210 unknown "" "" "" "" 20210 Hand X-ray 2024-07-14 16:21:58 UTC "" "" 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/11896 11896 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_20210 unknown "" "" "" "" 20210 Hand X-ray 2024-07-14 16:21:58 UTC "" "" 0 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12128 12128 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20661 female ZIC1 http://identifiers.org/ncbigene/7545 European - Eastern Macedonian 20661 MRI 2024-08-13 13:52:22 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 sagittal T1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12128 12128 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20661 female ZIC4 http://identifiers.org/ncbigene/84107 European - Eastern Macedonian 20661 MRI 2024-08-13 13:52:22 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 sagittal T1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12128 12128 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20662 female ZIC1 http://identifiers.org/ncbigene/7545 European - Eastern Macedonian 20662 MRI 2024-08-13 13:56:08 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 axial T2w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12128 12128 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20662 female ZIC4 http://identifiers.org/ncbigene/84107 European - Eastern Macedonian 20662 MRI 2024-08-13 13:56:08 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 axial T2w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12129 12129 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20664 female ZIC1 http://identifiers.org/ncbigene/7545 European - Eastern Macedonian 20664 MRI 2024-08-13 14:16:14 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 Saggital T1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12129 12129 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20664 female ZIC4 http://identifiers.org/ncbigene/84107 European - Eastern Macedonian 20664 MRI 2024-08-13 14:16:14 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 Saggital T1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12129 12129 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20665 female ZIC1 http://identifiers.org/ncbigene/7545 European - Eastern Macedonian 20665 MRI 2024-08-13 14:16:38 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12129 12129 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20665 female ZIC4 http://identifiers.org/ncbigene/84107 European - Eastern Macedonian 20665 MRI 2024-08-13 14:16:38 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12130 12130 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20667 female ZIC1 http://identifiers.org/ncbigene/7545 European - Southern Italian 20667 MRI 2024-08-14 13:56:33 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 T1 saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12130 12130 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20667 female ZIC4 http://identifiers.org/ncbigene/84107 European - Southern Italian 20667 MRI 2024-08-14 13:56:33 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 T1 saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12130 12130 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20668 female ZIC4 http://identifiers.org/ncbigene/84107 European - Southern Italian 20668 MRI 2024-08-14 13:56:52 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12130 12130 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20668 female ZIC1 http://identifiers.org/ncbigene/7545 European - Southern Italian 20668 MRI 2024-08-14 13:56:52 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 T2w axial NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12237 12237 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_20858 female FMR1 http://identifiers.org/ncbigene/2332 American - Latin/Hispanic columbian 20858 Frontal face 2024-08-23 11:51:55 UTC 27456465 http://rdf.ncbi.nlm.nih.gov/pubmed/27456465 32 0 Bar in front of the eyes NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12237 12237 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20858 female FMR1 http://identifiers.org/ncbigene/2332 American - Latin/Hispanic columbian 20858 Frontal face 2024-08-23 11:51:55 UTC 27456465 http://rdf.ncbi.nlm.nih.gov/pubmed/27456465 32 0 Bar in front of the eyes NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12237 12237 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_20858 female FMR1 http://identifiers.org/ncbigene/2332 American - Latin/Hispanic columbian 20858 Frontal face 2024-08-23 11:51:55 UTC 27456465 http://rdf.ncbi.nlm.nih.gov/pubmed/27456465 32 0 Bar in front of the eyes NANDO:2200205 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/1204 1204 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_1556 male CREBBP http://identifiers.org/ncbigene/1387 Caucasian, European UK 1556 Frontal face 2022-02-25 16:45:38 UTC 29460469 http://rdf.ncbi.nlm.nih.gov/pubmed/29460469 4 0 "" NANDO:1200922 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/1204 1204 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_1556 male CREBBP http://identifiers.org/ncbigene/1387 Caucasian, European UK 1556 Frontal face 2022-02-25 16:45:38 UTC 29460469 http://rdf.ncbi.nlm.nih.gov/pubmed/29460469 4 0 "" NANDO:2200205 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/1204 1204 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_1557 male CREBBP http://identifiers.org/ncbigene/1387 Caucasian, European UK 1557 Frontal face 2022-02-25 16:45:41 UTC 29460469 http://rdf.ncbi.nlm.nih.gov/pubmed/29460469 0 0 "" NANDO:1200922 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/1204 1204 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_1557 male CREBBP http://identifiers.org/ncbigene/1387 Caucasian, European UK 1557 Frontal face 2022-02-25 16:45:41 UTC 29460469 http://rdf.ncbi.nlm.nih.gov/pubmed/29460469 0 0 "" NANDO:1200922 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/1204 1204 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_1558 male CREBBP http://identifiers.org/ncbigene/1387 Caucasian, European UK 1558 Frontal face 2022-02-25 16:45:42 UTC 29460469 http://rdf.ncbi.nlm.nih.gov/pubmed/29460469 0 0 "" NANDO:2200205 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/1204 1204 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_1558 male CREBBP http://identifiers.org/ncbigene/1387 Caucasian, European UK 1558 Frontal face 2022-02-25 16:45:42 UTC 29460469 http://rdf.ncbi.nlm.nih.gov/pubmed/29460469 0 0 "" NANDO:2200205 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/1204 1204 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_1559 male CREBBP http://identifiers.org/ncbigene/1387 Caucasian, European UK 1559 Profile 2021-04-14 12:11:42 UTC 29460469 http://rdf.ncbi.nlm.nih.gov/pubmed/29460469 4 0 "" NANDO:1200922 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/1204 1204 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_1559 male CREBBP http://identifiers.org/ncbigene/1387 Caucasian, European UK 1559 Profile 2021-04-14 12:11:42 UTC 29460469 http://rdf.ncbi.nlm.nih.gov/pubmed/29460469 4 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12128 12128 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20660 female ZIC4 http://identifiers.org/ncbigene/84107 European - Eastern Macedonian 20660 Frontal face 2024-08-13 13:49:58 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12128 12128 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20660 female ZIC1 http://identifiers.org/ncbigene/7545 European - Eastern Macedonian 20660 Frontal face 2024-08-13 13:49:58 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12129 12129 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20663 female ZIC1 http://identifiers.org/ncbigene/7545 European - Eastern Macedonian 20663 Frontal face 2024-08-13 14:15:50 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12129 12129 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20663 female ZIC4 http://identifiers.org/ncbigene/84107 European - Eastern Macedonian 20663 Frontal face 2024-08-13 14:15:50 UTC 23679990 http://rdf.ncbi.nlm.nih.gov/pubmed/23679990 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12237 12237 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_20859 female FMR1 http://identifiers.org/ncbigene/2332 American - Latin/Hispanic columbian 20859 Others 2024-08-23 11:52:16 UTC 27456465 http://rdf.ncbi.nlm.nih.gov/pubmed/27456465 32 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12237 12237 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20859 female FMR1 http://identifiers.org/ncbigene/2332 American - Latin/Hispanic columbian 20859 Others 2024-08-23 11:52:16 UTC 27456465 http://rdf.ncbi.nlm.nih.gov/pubmed/27456465 32 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12237 12237 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_20859 female FMR1 http://identifiers.org/ncbigene/2332 American - Latin/Hispanic columbian 20859 Others 2024-08-23 11:52:16 UTC 27456465 http://rdf.ncbi.nlm.nih.gov/pubmed/27456465 32 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12264 12264 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20897 female USB1 http://identifiers.org/ncbigene/79650 Caucasian US 20897 Frontal face 2024-08-27 10:07:59 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12264 12264 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20898 female USB1 http://identifiers.org/ncbigene/79650 Caucasian US 20898 Limbs 2024-08-27 10:08:14 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12264 12264 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20899 female USB1 http://identifiers.org/ncbigene/79650 Caucasian US 20899 Limbs 2024-08-27 10:08:55 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12264 12264 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20900 female USB1 http://identifiers.org/ncbigene/79650 Caucasian US 20900 Limbs 2024-08-27 10:09:08 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12265 12265 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20901 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern, European Turkey 20901 Frontal face 2024-08-27 10:13:29 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12265 12265 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20902 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern, European Turkey 20902 Limbs 2024-08-27 10:13:37 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12265 12265 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20903 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern, European Turkey 20903 Limbs 2024-08-27 10:13:51 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12103 12103 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20595 male NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkish 20595 Frontal face 2024-08-12 15:00:40 UTC "" "" 0 9 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12103 12103 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20595 male NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkish 20595 Frontal face 2024-08-12 15:00:40 UTC "" "" 0 9 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12104 12104 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20596 female NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkish 20596 Frontal face 2024-08-12 15:05:37 UTC "" "" 0 9 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12104 12104 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20596 female NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkish 20596 Frontal face 2024-08-12 15:05:37 UTC "" "" 0 9 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12428 12428 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21256 female DEL16P11.2 http://identifiers.org/ncbigene/100187724 Arab "" 21256 MRI 2024-10-05 14:58:17 UTC 39232803 http://rdf.ncbi.nlm.nih.gov/pubmed/39232803 1 10 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12428 12428 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21257 female DEL16P11.2 http://identifiers.org/ncbigene/100187724 Arab "" 21257 MRI 2024-10-05 14:58:49 UTC 39232803 http://rdf.ncbi.nlm.nih.gov/pubmed/39232803 1 10 T1w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12428 12428 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21258 female DEL16P11.2 http://identifiers.org/ncbigene/100187724 Arab "" 21258 MRI 2024-10-05 14:59:15 UTC 39232803 http://rdf.ncbi.nlm.nih.gov/pubmed/39232803 1 10 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12430 12430 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21263 female RAB35 http://identifiers.org/ncbigene/11021 Arab "" 21263 MRI 2024-10-05 19:37:01 UTC 38432637 http://rdf.ncbi.nlm.nih.gov/pubmed/38432637 0 11 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12430 12430 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21263 female RYR2 http://identifiers.org/ncbigene/6262 Arab "" 21263 MRI 2024-10-05 19:37:01 UTC 38432637 http://rdf.ncbi.nlm.nih.gov/pubmed/38432637 0 11 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12430 12430 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21264 female RYR2 http://identifiers.org/ncbigene/6262 Arab "" 21264 MRI 2024-10-05 19:37:34 UTC 38432637 http://rdf.ncbi.nlm.nih.gov/pubmed/38432637 0 11 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12430 12430 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21264 female RAB35 http://identifiers.org/ncbigene/11021 Arab "" 21264 MRI 2024-10-05 19:37:34 UTC 38432637 http://rdf.ncbi.nlm.nih.gov/pubmed/38432637 0 11 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12430 12430 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21265 female RAB35 http://identifiers.org/ncbigene/11021 Arab "" 21265 MRI 2024-10-05 19:38:02 UTC 38432637 http://rdf.ncbi.nlm.nih.gov/pubmed/38432637 0 11 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12430 12430 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21265 female RYR2 http://identifiers.org/ncbigene/6262 Arab "" 21265 MRI 2024-10-05 19:38:02 UTC 38432637 http://rdf.ncbi.nlm.nih.gov/pubmed/38432637 0 11 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12430 12430 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21266 female RAB35 http://identifiers.org/ncbigene/11021 Arab "" 21266 MRI 2024-10-05 19:38:31 UTC 38432637 http://rdf.ncbi.nlm.nih.gov/pubmed/38432637 0 11 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12430 12430 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21266 female RYR2 http://identifiers.org/ncbigene/6262 Arab "" 21266 MRI 2024-10-05 19:38:31 UTC 38432637 http://rdf.ncbi.nlm.nih.gov/pubmed/38432637 0 11 T2w, axial NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12061 12061 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20512 male NBN http://identifiers.org/ncbigene/4683 European "" 20512 Frontal face 2024-08-04 14:48:04 UTC 10799436 http://rdf.ncbi.nlm.nih.gov/pubmed/10799436 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12061 12061 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20512 male NBN http://identifiers.org/ncbigene/4683 European "" 20512 Frontal face 2024-08-04 14:48:04 UTC 10799436 http://rdf.ncbi.nlm.nih.gov/pubmed/10799436 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12061 12061 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20513 male NBN http://identifiers.org/ncbigene/4683 European "" 20513 Frontal face 2024-08-04 14:48:13 UTC 10799436 http://rdf.ncbi.nlm.nih.gov/pubmed/10799436 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12061 12061 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20513 male NBN http://identifiers.org/ncbigene/4683 European "" 20513 Frontal face 2024-08-04 14:48:13 UTC 10799436 http://rdf.ncbi.nlm.nih.gov/pubmed/10799436 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12061 12061 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20514 male NBN http://identifiers.org/ncbigene/4683 European "" 20514 Profile 2024-08-04 14:48:21 UTC 10799436 http://rdf.ncbi.nlm.nih.gov/pubmed/10799436 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12061 12061 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20514 male NBN http://identifiers.org/ncbigene/4683 European "" 20514 Profile 2024-08-04 14:48:21 UTC 10799436 http://rdf.ncbi.nlm.nih.gov/pubmed/10799436 0 0 "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/12241 12241 STICKLER SYNDROME, TYPE I https://db.gestaltmatcher.org/patients/image_20866 female COL2A1 http://identifiers.org/ncbigene/1280 European "" 20866 Frontal face 2024-08-24 09:06:37 UTC 11007540 http://rdf.ncbi.nlm.nih.gov/pubmed/11007540 14 0 "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/12241 12241 STICKLER SYNDROME, TYPE I https://db.gestaltmatcher.org/patients/image_20867 female COL2A1 http://identifiers.org/ncbigene/1280 European "" 20867 Profile 2024-08-24 09:06:54 UTC 11007540 http://rdf.ncbi.nlm.nih.gov/pubmed/11007540 14 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12247 12247 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20875 male RECQL3 http://identifiers.org/ncbigene/641 Asian - West/Middle Eastern, Caucasian "" 20875 Frontal face 2024-08-25 09:27:53 UTC 30410776 http://rdf.ncbi.nlm.nih.gov/pubmed/30410776 22 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12247 12247 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20875 male RECQL3 http://identifiers.org/ncbigene/641 Asian - West/Middle Eastern, Caucasian "" 20875 Frontal face 2024-08-25 09:27:53 UTC 30410776 http://rdf.ncbi.nlm.nih.gov/pubmed/30410776 22 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12259 12259 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20892 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern "" 20892 Frontal face 2024-08-26 15:14:03 UTC 33111394 http://rdf.ncbi.nlm.nih.gov/pubmed/33111394 9 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12266 12266 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20904 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern, European "" 20904 Profile 2024-08-27 10:19:27 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12266 12266 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20905 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern, European "" 20905 Limbs 2024-08-27 10:19:39 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12266 12266 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20906 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern, European "" 20906 Limbs 2024-08-27 10:19:52 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12267 12267 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20907 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern, European "" 20907 Profile 2024-08-27 12:20:31 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12267 12267 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20908 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern, European "" 20908 Limbs 2024-08-27 12:20:51 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12267 12267 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20909 male USB1 http://identifiers.org/ncbigene/79650 Asian - West/Middle Eastern, European "" 20909 Limbs 2024-08-27 12:21:03 UTC 22269211 http://rdf.ncbi.nlm.nih.gov/pubmed/22269211 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12414 12414 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_21230 male FMR1 http://identifiers.org/ncbigene/2332 European - Northwestern "" 21230 Frontal face 2024-09-29 16:08:52 UTC 9004132 http://rdf.ncbi.nlm.nih.gov/pubmed/9004132 29 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12414 12414 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_21230 male FMR1 http://identifiers.org/ncbigene/2332 European - Northwestern "" 21230 Frontal face 2024-09-29 16:08:52 UTC 9004132 http://rdf.ncbi.nlm.nih.gov/pubmed/9004132 29 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12415 12415 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_21231 male FMR1 http://identifiers.org/ncbigene/2332 European - Northwestern "" 21231 Frontal face 2024-09-29 16:26:09 UTC 9004132 http://rdf.ncbi.nlm.nih.gov/pubmed/9004132 27 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12415 12415 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_21231 male FMR1 http://identifiers.org/ncbigene/2332 European - Northwestern "" 21231 Frontal face 2024-09-29 16:26:09 UTC 9004132 http://rdf.ncbi.nlm.nih.gov/pubmed/9004132 27 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12416 12416 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_21232 male FMR1 http://identifiers.org/ncbigene/2332 European - Northwestern "" 21232 Frontal face 2024-09-29 16:34:07 UTC 9004132 http://rdf.ncbi.nlm.nih.gov/pubmed/9004132 27 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/12416 12416 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_21232 male FMR1 http://identifiers.org/ncbigene/2332 European - Northwestern "" 21232 Frontal face 2024-09-29 16:34:07 UTC 9004132 http://rdf.ncbi.nlm.nih.gov/pubmed/9004132 27 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12440 12440 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21297 male TRPM7 http://identifiers.org/ncbigene/54822 Asian - South/Indian "" 21297 Frontal face 2024-10-07 15:54:03 UTC 37380819 http://rdf.ncbi.nlm.nih.gov/pubmed/37380819 10 6 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12099 12099 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20587 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20587 Frontal face 2024-08-12 10:30:04 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12099 12099 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20587 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20587 Frontal face 2024-08-12 10:30:04 UTC "" "" 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12099 12099 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20588 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20588 Profile 2024-08-12 10:30:09 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12099 12099 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20588 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20588 Profile 2024-08-12 10:30:09 UTC "" "" 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12100 12100 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20589 unknown NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20589 Frontal face 2024-08-12 10:33:18 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12100 12100 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20589 unknown NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20589 Frontal face 2024-08-12 10:33:18 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12100 12100 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20590 unknown NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20590 Profile 2024-08-12 10:33:26 UTC "" "" 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12100 12100 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20590 unknown NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20590 Profile 2024-08-12 10:33:26 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12107 12107 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20601 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20601 Frontal face 2024-08-12 15:57:38 UTC "" "" 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12107 12107 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20601 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 20601 Frontal face 2024-08-12 15:57:38 UTC "" "" 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12132 12132 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20669 male USB1 http://identifiers.org/ncbigene/79650 African - North "" 20669 Frontal face 2024-08-15 07:17:13 UTC "" "" 2 7 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12132 12132 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20670 male USB1 http://identifiers.org/ncbigene/79650 African - North "" 20670 Consent 2024-08-15 09:51:13 UTC "" "" 0 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12019 12019 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20404 female PURA http://identifiers.org/ncbigene/5813 "" "" 20404 MRI 2024-07-26 09:07:34 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 T1 sagittal NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12019 12019 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20405 female PURA http://identifiers.org/ncbigene/5813 "" "" 20405 MRI 2024-07-26 09:13:52 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 T2 axial NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12044 12044 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20475 male PURA http://identifiers.org/ncbigene/5813 "" "" 20475 MRI 2024-07-29 10:28:58 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 sagittal, T1 NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12044 12044 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20476 male PURA http://identifiers.org/ncbigene/5813 "" "" 20476 MRI 2024-07-29 10:31:50 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 axial NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12044 12044 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20477 male PURA http://identifiers.org/ncbigene/5813 "" "" 20477 MRI 2024-07-29 10:31:02 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 coronal T2 NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12046 12046 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20480 male PURA http://identifiers.org/ncbigene/5813 "" "" 20480 MRI 2024-07-29 10:45:55 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 sagittal FLAIR NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12046 12046 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20481 male PURA http://identifiers.org/ncbigene/5813 "" "" 20481 MRI 2024-07-29 10:47:12 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 axial T2 NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12048 12048 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20484 female PURA http://identifiers.org/ncbigene/5813 "" "" 20484 MRI 2024-07-29 10:59:32 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 sagittal, T2 NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12048 12048 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20485 female PURA http://identifiers.org/ncbigene/5813 "" "" 20485 MRI 2024-07-29 11:01:43 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 axial, T2 NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12048 12048 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20486 female PURA http://identifiers.org/ncbigene/5813 "" "" 20486 MRI 2024-07-29 11:02:33 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 coronal T1 NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12051 12051 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20490 female PURA http://identifiers.org/ncbigene/5813 "" "" 20490 MRI 2024-07-29 12:06:56 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 2 0 sagittal NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12051 12051 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20491 female PURA http://identifiers.org/ncbigene/5813 "" "" 20491 MRI 2024-07-29 12:07:03 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 6 0 sagittal NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12054 12054 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20499 female PURA http://identifiers.org/ncbigene/5813 "" "" 20499 MRI 2024-07-29 12:20:23 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 coronal FLAIR NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12429 12429 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21259 female ABL1 http://identifiers.org/ncbigene/25 "" "" 21259 MRI 2024-10-05 15:13:57 UTC 38760987 http://rdf.ncbi.nlm.nih.gov/pubmed/38760987 2 0 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12429 12429 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21260 female ABL1 http://identifiers.org/ncbigene/25 "" "" 21260 MRI 2024-10-05 15:15:07 UTC 38760987 http://rdf.ncbi.nlm.nih.gov/pubmed/38760987 2 0 T1w, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12429 12429 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21261 female ABL1 http://identifiers.org/ncbigene/25 "" "" 21261 Frontal face 2024-10-05 15:15:01 UTC 38760987 http://rdf.ncbi.nlm.nih.gov/pubmed/38760987 2 0 T1w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12429 12429 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21262 female ABL1 http://identifiers.org/ncbigene/25 "" "" 21262 MRI 2024-10-05 15:15:46 UTC 38760987 http://rdf.ncbi.nlm.nih.gov/pubmed/38760987 0 0 Prenatal (24+5) T2w sagittal NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12019 12019 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20403 female PURA http://identifiers.org/ncbigene/5813 "" "" 20403 Frontal face 2024-07-26 08:59:50 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 5 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12044 12044 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20474 male PURA http://identifiers.org/ncbigene/5813 "" "" 20474 Frontal face 2024-07-29 10:26:07 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 14 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12045 12045 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20478 male PURA http://identifiers.org/ncbigene/5813 "" "" 20478 Frontal face 2024-07-29 10:34:31 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 1 6 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12046 12046 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20479 male PURA http://identifiers.org/ncbigene/5813 "" "" 20479 Frontal face 2024-07-29 10:44:24 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 4 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12047 12047 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20482 male PURA http://identifiers.org/ncbigene/5813 "" "" 20482 Frontal face 2024-07-29 10:53:57 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 12 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12048 12048 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20483 female PURA http://identifiers.org/ncbigene/5813 "" "" 20483 Frontal face 2024-07-29 10:58:48 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 1 6 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12049 12049 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20487 female PURA http://identifiers.org/ncbigene/5813 "" "" 20487 Frontal face 2024-07-29 11:55:59 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 3 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12050 12050 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20488 male PURA http://identifiers.org/ncbigene/5813 "" "" 20488 Frontal face 2024-07-29 12:00:53 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 13 6 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12051 12051 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20489 female PURA http://identifiers.org/ncbigene/5813 "" "" 20489 Frontal face 2024-07-29 12:04:16 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 15 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12051 12051 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20492 female PURA http://identifiers.org/ncbigene/5813 "" "" 20492 MRI 2024-07-29 12:07:19 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 9 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12052 12052 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20493 male PURA http://identifiers.org/ncbigene/5813 "" "" 20493 Frontal face 2024-07-29 12:10:06 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 11 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12053 12053 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20494 male PURA http://identifiers.org/ncbigene/5813 "" "" 20494 Frontal face 2024-07-29 12:13:36 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 10 6 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12054 12054 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20495 female PURA http://identifiers.org/ncbigene/5813 "" "" 20495 Frontal face 2024-07-29 12:18:47 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 4 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12054 12054 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20496 female PURA http://identifiers.org/ncbigene/5813 "" "" 20496 Frontal face 2024-07-29 12:18:59 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 4 5 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12054 12054 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20497 female PURA http://identifiers.org/ncbigene/5813 "" "" 20497 Frontal face 2024-07-29 12:19:16 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 18 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12054 12054 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20498 female PURA http://identifiers.org/ncbigene/5813 "" "" 20498 Frontal face 2024-07-29 12:19:39 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 27 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/12054 12054 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_20500 female PURA http://identifiers.org/ncbigene/5813 "" "" 20500 Others 2024-07-29 12:20:54 UTC 29150892 http://rdf.ncbi.nlm.nih.gov/pubmed/29150892 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12057 12057 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20506 female NBN http://identifiers.org/ncbigene/4683 "" "" 20506 Frontal face 2024-07-31 10:32:30 UTC 16415040 http://rdf.ncbi.nlm.nih.gov/pubmed/16415040 16 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12057 12057 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20506 female NBN http://identifiers.org/ncbigene/4683 "" "" 20506 Frontal face 2024-07-31 10:32:30 UTC 16415040 http://rdf.ncbi.nlm.nih.gov/pubmed/16415040 16 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12057 12057 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20507 female NBN http://identifiers.org/ncbigene/4683 "" "" 20507 Profile 2024-07-31 10:32:40 UTC 16415040 http://rdf.ncbi.nlm.nih.gov/pubmed/16415040 31 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12057 12057 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20507 female NBN http://identifiers.org/ncbigene/4683 "" "" 20507 Profile 2024-07-31 10:32:40 UTC 16415040 http://rdf.ncbi.nlm.nih.gov/pubmed/16415040 31 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12058 12058 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20508 female NBN http://identifiers.org/ncbigene/4683 "" "" 20508 Frontal face 2024-07-31 10:34:24 UTC 16415040 http://rdf.ncbi.nlm.nih.gov/pubmed/16415040 13 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12058 12058 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20508 female NBN http://identifiers.org/ncbigene/4683 "" "" 20508 Frontal face 2024-07-31 10:34:24 UTC 16415040 http://rdf.ncbi.nlm.nih.gov/pubmed/16415040 13 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12062 12062 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20515 male NBN http://identifiers.org/ncbigene/4683 "" "" 20515 Frontal face 2024-08-04 15:52:24 UTC 15279809 http://rdf.ncbi.nlm.nih.gov/pubmed/15279809 7 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12062 12062 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20515 male NBN http://identifiers.org/ncbigene/4683 "" "" 20515 Frontal face 2024-08-04 15:52:24 UTC 15279809 http://rdf.ncbi.nlm.nih.gov/pubmed/15279809 7 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12063 12063 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20516 male NBN http://identifiers.org/ncbigene/4683 "" "" 20516 Frontal face 2024-08-04 15:54:24 UTC 15279809 http://rdf.ncbi.nlm.nih.gov/pubmed/15279809 1 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12063 12063 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20516 male NBN http://identifiers.org/ncbigene/4683 "" "" 20516 Frontal face 2024-08-04 15:54:24 UTC 15279809 http://rdf.ncbi.nlm.nih.gov/pubmed/15279809 1 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12066 12066 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20520 female NBN http://identifiers.org/ncbigene/4683 "" "" 20520 Frontal face 2024-08-05 12:39:14 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 13 6 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12066 12066 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20520 female NBN http://identifiers.org/ncbigene/4683 "" "" 20520 Frontal face 2024-08-05 12:39:14 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 13 6 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12066 12066 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20521 female NBN http://identifiers.org/ncbigene/4683 "" "" 20521 Profile 2024-08-05 12:39:28 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 13 6 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12066 12066 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20521 female NBN http://identifiers.org/ncbigene/4683 "" "" 20521 Profile 2024-08-05 12:39:28 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 13 6 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12067 12067 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20522 male NBN http://identifiers.org/ncbigene/4683 "" "" 20522 Frontal face 2024-08-05 12:49:16 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 11 6 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12067 12067 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20522 male NBN http://identifiers.org/ncbigene/4683 "" "" 20522 Frontal face 2024-08-05 12:49:16 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 11 6 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12067 12067 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20523 male NBN http://identifiers.org/ncbigene/4683 "" "" 20523 Profile 2024-08-05 12:49:30 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 11 6 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12067 12067 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20523 male NBN http://identifiers.org/ncbigene/4683 "" "" 20523 Profile 2024-08-05 12:49:30 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 11 6 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12068 12068 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20524 female NBN http://identifiers.org/ncbigene/4683 "" "" 20524 Frontal face 2024-08-05 12:56:26 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 4 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12068 12068 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20524 female NBN http://identifiers.org/ncbigene/4683 "" "" 20524 Frontal face 2024-08-05 12:56:26 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 4 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12068 12068 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20525 female NBN http://identifiers.org/ncbigene/4683 "" "" 20525 Profile 2024-08-05 12:56:37 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 4 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12068 12068 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20525 female NBN http://identifiers.org/ncbigene/4683 "" "" 20525 Profile 2024-08-05 12:56:37 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 4 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12069 12069 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20526 male NBN http://identifiers.org/ncbigene/4683 "" "" 20526 Frontal face 2024-08-05 12:59:39 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 0 4 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12069 12069 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20526 male NBN http://identifiers.org/ncbigene/4683 "" "" 20526 Frontal face 2024-08-05 12:59:39 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 0 4 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12069 12069 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20527 male NBN http://identifiers.org/ncbigene/4683 "" "" 20527 Profile 2024-08-05 12:59:49 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 0 4 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12069 12069 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20527 male NBN http://identifiers.org/ncbigene/4683 "" "" 20527 Profile 2024-08-05 12:59:49 UTC 7545870 http://rdf.ncbi.nlm.nih.gov/pubmed/7545870 0 4 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12071 12071 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20528 male NBN http://identifiers.org/ncbigene/4683 "" "" 20528 Frontal face 2024-08-06 13:18:18 UTC 8929954 http://rdf.ncbi.nlm.nih.gov/pubmed/8929954 9 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12071 12071 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20528 male NBN http://identifiers.org/ncbigene/4683 "" "" 20528 Frontal face 2024-08-06 13:18:18 UTC 8929954 http://rdf.ncbi.nlm.nih.gov/pubmed/8929954 9 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12071 12071 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20529 male NBN http://identifiers.org/ncbigene/4683 "" "" 20529 Frontal face 2024-08-06 13:18:48 UTC 8929954 http://rdf.ncbi.nlm.nih.gov/pubmed/8929954 24 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12071 12071 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20529 male NBN http://identifiers.org/ncbigene/4683 "" "" 20529 Frontal face 2024-08-06 13:18:48 UTC 8929954 http://rdf.ncbi.nlm.nih.gov/pubmed/8929954 24 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12071 12071 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20530 male NBN http://identifiers.org/ncbigene/4683 "" "" 20530 Profile 2024-08-06 13:19:24 UTC 8929954 http://rdf.ncbi.nlm.nih.gov/pubmed/8929954 24 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12071 12071 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20530 male NBN http://identifiers.org/ncbigene/4683 "" "" 20530 Profile 2024-08-06 13:19:24 UTC 8929954 http://rdf.ncbi.nlm.nih.gov/pubmed/8929954 24 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12205 12205 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20780 male RECQL3 http://identifiers.org/ncbigene/641 "" "" 20780 Frontal face 2024-08-20 12:46:35 UTC 33219493 http://rdf.ncbi.nlm.nih.gov/pubmed/33219493 0 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12205 12205 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20780 male RECQL3 http://identifiers.org/ncbigene/641 "" "" 20780 Frontal face 2024-08-20 12:46:35 UTC 33219493 http://rdf.ncbi.nlm.nih.gov/pubmed/33219493 0 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12258 12258 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20891 female RECQL3 http://identifiers.org/ncbigene/641 "" "" 20891 Frontal face 2024-08-26 15:00:23 UTC 32996068 http://rdf.ncbi.nlm.nih.gov/pubmed/32996068 5 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12258 12258 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20891 female RECQL3 http://identifiers.org/ncbigene/641 "" "" 20891 Frontal face 2024-08-26 15:00:23 UTC 32996068 http://rdf.ncbi.nlm.nih.gov/pubmed/32996068 5 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/12268 12268 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_20910 female USB1 http://identifiers.org/ncbigene/79650 "" "" 20910 Frontal face 2024-08-27 12:37:16 UTC 21872685 http://rdf.ncbi.nlm.nih.gov/pubmed/21872685 5 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12376 12376 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_21114 male RECQL4 http://identifiers.org/ncbigene/9401 "" "" 21114 Profile 2024-09-17 16:29:23 UTC 24518840 http://rdf.ncbi.nlm.nih.gov/pubmed/24518840 1 7 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12056 12056 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20504 female NBN http://identifiers.org/ncbigene/4683 "" "" 20504 Frontal face 2024-07-31 07:43:07 UTC "" "" 3 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12056 12056 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20504 female NBN http://identifiers.org/ncbigene/4683 "" "" 20504 Frontal face 2024-07-31 07:43:07 UTC "" "" 3 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12056 12056 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20505 female NBN http://identifiers.org/ncbigene/4683 "" "" 20505 Profile 2024-07-31 07:43:09 UTC "" "" 3 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12056 12056 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20505 female NBN http://identifiers.org/ncbigene/4683 "" "" 20505 Profile 2024-07-31 07:43:09 UTC "" "" 3 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12101 12101 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20591 unknown NBN http://identifiers.org/ncbigene/4683 "" "" 20591 Frontal face 2024-08-12 14:48:53 UTC "" "" 0 6 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12101 12101 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20591 unknown NBN http://identifiers.org/ncbigene/4683 "" "" 20591 Frontal face 2024-08-12 14:48:53 UTC "" "" 0 6 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12101 12101 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20592 unknown NBN http://identifiers.org/ncbigene/4683 "" "" 20592 Profile 2024-08-12 14:49:26 UTC "" "" 0 6 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12101 12101 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20592 unknown NBN http://identifiers.org/ncbigene/4683 "" "" 20592 Profile 2024-08-12 14:49:26 UTC "" "" 0 6 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12102 12102 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20593 female NBN http://identifiers.org/ncbigene/4683 "" "" 20593 Frontal face 2024-08-12 14:52:53 UTC "" "" 9 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12102 12102 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20593 female NBN http://identifiers.org/ncbigene/4683 "" "" 20593 Frontal face 2024-08-12 14:52:53 UTC "" "" 9 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12102 12102 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20594 female NBN http://identifiers.org/ncbigene/4683 "" "" 20594 Frontal face 2024-08-12 14:53:06 UTC "" "" 9 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12102 12102 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20594 female NBN http://identifiers.org/ncbigene/4683 "" "" 20594 Frontal face 2024-08-12 14:53:06 UTC "" "" 9 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/12131 12131 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_20666 male KMT2A http://identifiers.org/ncbigene/4297 "" "" 20666 Frontal face 2024-08-14 10:25:45 UTC "" "" 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/12131 12131 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_20666 male BRPF1 http://identifiers.org/ncbigene/7862 "" "" 20666 Frontal face 2024-08-14 10:25:45 UTC "" "" 0 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12213 12213 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20797 male RECQL3 http://identifiers.org/ncbigene/641 "" "" 20797 Frontal face 2024-08-20 18:25:07 UTC "" "" 0 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12213 12213 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20797 male RECQL3 http://identifiers.org/ncbigene/641 "" "" 20797 Frontal face 2024-08-20 18:25:07 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12233 12233 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20854 unknown "" "" Asian - South-East Thai 20854 Frontal face 2024-08-23 11:31:50 UTC 34288412 http://rdf.ncbi.nlm.nih.gov/pubmed/34288412 0 0 Bar in front of the eyes NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12342 12342 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21040 male "" "" Asian - West/Middle Eastern Turkish 21040 MRI 2024-09-08 21:35:37 UTC 21093738 http://rdf.ncbi.nlm.nih.gov/pubmed/21093738 0 0 T1w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12342 12342 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21041 male "" "" Asian - West/Middle Eastern Turkish 21041 MRI 2024-09-08 21:36:03 UTC 21093738 http://rdf.ncbi.nlm.nih.gov/pubmed/21093738 0 0 T1w, axial NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/12 12 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_17 female "" "" African African-American 17 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/12 12 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_17 female "" "" African African-American 17 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12074 12074 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20533 female "" "" Asian - East, Caucasian Japanese/Caucasian 20533 Frontal face 2024-08-06 14:02:12 UTC 4268391 http://rdf.ncbi.nlm.nih.gov/pubmed/4268391 1 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12176 12176 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20735 female "" "" African - Sub-Saharan DRC 20735 Frontal face 2024-08-19 11:14:49 UTC 27925162 http://rdf.ncbi.nlm.nih.gov/pubmed/27925162 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12215 12215 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20799 male "" "" American - Latin/Hispanic Brazil 20799 Frontal face 2024-08-21 07:28:16 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 5 1 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12216 12216 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20800 female "" "" American - Latin/Hispanic Brazil 20800 Frontal face 2024-08-21 07:29:06 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12217 12217 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20801 female "" "" American - Latin/Hispanic Brazil 20801 Frontal face 2024-08-21 07:29:56 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12218 12218 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20802 male "" "" American - Latin/Hispanic Argentina 20802 Frontal face 2024-08-21 07:31:16 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 9 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12218 12218 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20803 male "" "" American - Latin/Hispanic Argentina 20803 Profile 2024-08-21 07:31:36 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 9 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12219 12219 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20804 female "" "" American - Latin/Hispanic Argentina 20804 Frontal face 2024-08-21 07:32:30 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 3 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12219 12219 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20805 female "" "" American - Latin/Hispanic Argentina 20805 Profile 2024-08-21 07:32:39 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 3 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12220 12220 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20806 male "" "" American - Latin/Hispanic Argentina 20806 Frontal face 2024-08-21 07:33:33 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 10 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12220 12220 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20807 male "" "" American - Latin/Hispanic Argentina 20807 Profile 2024-08-21 07:34:26 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 10 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12221 12221 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20808 male "" "" American - Latin/Hispanic Argentina 20808 Frontal face 2024-08-21 07:36:07 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 3 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12221 12221 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20809 male "" "" American - Latin/Hispanic Argentina 20809 Profile 2024-08-21 07:36:17 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 3 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12222 12222 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20810 male "" "" American - Latin/Hispanic Argentina 20810 Frontal face 2024-08-21 07:37:20 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 4 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12222 12222 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20811 male "" "" American - Latin/Hispanic Argentina 20811 Profile 2024-08-21 07:37:28 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 4 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12304 12304 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20978 female "" "" Asian - West/Middle Eastern Iran 20978 Profile 2024-09-01 18:48:04 UTC 20300305 http://rdf.ncbi.nlm.nih.gov/pubmed/20300305 12 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12304 12304 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20978 female "" "" Asian - West/Middle Eastern Iran 20978 Profile 2024-09-01 18:48:04 UTC 20300305 http://rdf.ncbi.nlm.nih.gov/pubmed/20300305 12 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12304 12304 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20979 female "" "" Asian - West/Middle Eastern Iran 20979 Frontal face 2024-09-01 18:48:27 UTC 20300305 http://rdf.ncbi.nlm.nih.gov/pubmed/20300305 12 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12304 12304 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20979 female "" "" Asian - West/Middle Eastern Iran 20979 Frontal face 2024-09-01 18:48:27 UTC 20300305 http://rdf.ncbi.nlm.nih.gov/pubmed/20300305 12 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12319 12319 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_21012 female "" "" American - Latin/Hispanic Mexico 21012 Frontal face 2024-09-02 11:10:33 UTC 10818223 http://rdf.ncbi.nlm.nih.gov/pubmed/10818223 27 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12319 12319 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_21012 female "" "" American - Latin/Hispanic Mexico 21012 Frontal face 2024-09-02 11:10:33 UTC 10818223 http://rdf.ncbi.nlm.nih.gov/pubmed/10818223 27 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12342 12342 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21042 male "" "" Asian - West/Middle Eastern Turkish 21042 Profile 2024-09-08 21:36:23 UTC 21093738 http://rdf.ncbi.nlm.nih.gov/pubmed/21093738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12379 12379 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21117 male "" "" American - Latin/Hispanic, Asian, Asian - South/Indian Asian-Indian, Surinamese 21117 Frontal face 2024-09-21 15:00:13 UTC 32240827 http://rdf.ncbi.nlm.nih.gov/pubmed/32240827 1 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12379 12379 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21118 male "" "" American - Latin/Hispanic, Asian, Asian - South/Indian Asian-Indian, Surinamese 21118 Frontal face 2024-09-21 15:00:38 UTC 32240827 http://rdf.ncbi.nlm.nih.gov/pubmed/32240827 1 11 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12379 12379 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21119 male "" "" American - Latin/Hispanic, Asian, Asian - South/Indian Asian-Indian, Surinamese 21119 Limbs 2024-09-21 15:01:42 UTC 32240827 http://rdf.ncbi.nlm.nih.gov/pubmed/32240827 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12379 12379 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21120 male "" "" American - Latin/Hispanic, Asian, Asian - South/Indian Asian-Indian, Surinamese 21120 Limbs 2024-09-21 15:01:58 UTC 32240827 http://rdf.ncbi.nlm.nih.gov/pubmed/32240827 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12379 12379 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21121 male "" "" American - Latin/Hispanic, Asian, Asian - South/Indian Asian-Indian, Surinamese 21121 Limbs 2024-09-21 15:02:22 UTC 32240827 http://rdf.ncbi.nlm.nih.gov/pubmed/32240827 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12397 12397 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21168 male "" "" Unknown non-Caucasian 21168 Frontal face 2024-09-24 14:54:17 UTC 143445 http://rdf.ncbi.nlm.nih.gov/pubmed/143445 21 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12232 12232 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20852 female "" "" Asian - West/Middle Eastern Turkish 20852 Frontal face 2024-08-22 13:47:26 UTC "" "" 6 7 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12232 12232 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20852 female "" "" Asian - West/Middle Eastern Turkish 20852 Frontal face 2024-08-22 13:47:26 UTC "" "" 6 7 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12232 12232 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20853 female "" "" Asian - West/Middle Eastern Turkish 20853 Others 2024-08-22 13:47:40 UTC "" "" 6 7 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12232 12232 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20853 female "" "" Asian - West/Middle Eastern Turkish 20853 Others 2024-08-22 13:47:40 UTC "" "" 6 7 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12238 12238 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20861 female "" "" African - North Tunis 20861 Frontal face 2024-08-23 12:08:16 UTC "" "" 13 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12238 12238 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20861 female "" "" African - North Tunis 20861 Frontal face 2024-08-23 12:08:16 UTC "" "" 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/121 121 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_151 male "" "" "" Canadian (Syrian descent) 151 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/121 121 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_151 male "" "" "" Canadian (Syrian descent) 151 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/121 121 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_152 male "" "" "" Canadian (Syrian descent) 152 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/121 121 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_152 male "" "" "" Canadian (Syrian descent) 152 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/122 122 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_153 female "" "" "" Egyptian 153 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 2 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/122 122 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_153 female "" "" "" Egyptian 153 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 2 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/123 123 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_154 male "" "" "" Egyptian 154 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 9 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/123 123 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_154 male "" "" "" Egyptian 154 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 9 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/124 124 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_155 male "" "" "" Egyptian 155 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 2 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/124 124 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_155 male "" "" "" Egyptian 155 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 2 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12085 12085 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20555 female "" "" Unknown "" 20555 MRI 2024-08-11 14:42:06 UTC 35588332 http://rdf.ncbi.nlm.nih.gov/pubmed/35588332 0 11 T2w, Saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12085 12085 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20556 female "" "" Unknown "" 20556 MRI 2024-08-11 14:42:29 UTC 35588332 http://rdf.ncbi.nlm.nih.gov/pubmed/35588332 0 11 T1w, Axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12086 12086 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20558 female "" "" European "" 20558 MRI 2024-08-11 15:02:28 UTC 12689705 http://rdf.ncbi.nlm.nih.gov/pubmed/12689705 0 0 T1w, Saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12086 12086 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20559 female "" "" European "" 20559 MRI 2024-08-11 15:02:58 UTC 12689705 http://rdf.ncbi.nlm.nih.gov/pubmed/12689705 0 0 T1w, Parasaggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12087 12087 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20560 female "" "" Unknown "" 20560 MRI 2024-08-11 15:15:46 UTC 37093228 http://rdf.ncbi.nlm.nih.gov/pubmed/37093228 0 0 T1w, Axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12087 12087 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20561 female "" "" Unknown "" 20561 MRI 2024-08-11 15:16:22 UTC 37093228 http://rdf.ncbi.nlm.nih.gov/pubmed/37093228 0 0 Balanced steady-state (B-TFE), Sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12283 12283 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20926 female "" "" European "" 20926 MRI 2024-08-30 07:46:35 UTC 29797040 http://rdf.ncbi.nlm.nih.gov/pubmed/29797040 13 0 T2w saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12283 12283 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20927 female "" "" European "" 20927 MRI 2024-08-30 07:47:07 UTC 29797040 http://rdf.ncbi.nlm.nih.gov/pubmed/29797040 13 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12283 12283 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20928 female "" "" European "" 20928 MRI 2024-08-30 07:47:36 UTC 29797040 http://rdf.ncbi.nlm.nih.gov/pubmed/29797040 13 0 TRUFI NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12283 12283 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20929 female "" "" European "" 20929 MRI 2024-08-30 07:48:07 UTC 29797040 http://rdf.ncbi.nlm.nih.gov/pubmed/29797040 13 0 TRUFI axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12284 12284 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20930 female "" "" European "" 20930 Frontal face 2024-08-30 07:53:59 UTC 29797040 http://rdf.ncbi.nlm.nih.gov/pubmed/29797040 16 0 TRUFI saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12284 12284 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20931 female "" "" European "" 20931 MRI 2024-08-30 07:54:43 UTC 29797040 http://rdf.ncbi.nlm.nih.gov/pubmed/29797040 16 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12284 12284 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20932 female "" "" European "" 20932 MRI 2024-08-30 07:55:14 UTC 29797040 http://rdf.ncbi.nlm.nih.gov/pubmed/29797040 16 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12284 12284 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20933 female "" "" European "" 20933 MRI 2024-08-30 07:55:48 UTC 29797040 http://rdf.ncbi.nlm.nih.gov/pubmed/29797040 16 0 TRUFI, saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12285 12285 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20934 female "" "" European "" 20934 MRI 2024-08-30 08:10:30 UTC 26507178 http://rdf.ncbi.nlm.nih.gov/pubmed/26507178 0 12 T2w Saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12285 12285 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20935 female "" "" European "" 20935 MRI 2024-08-30 08:10:56 UTC 26507178 http://rdf.ncbi.nlm.nih.gov/pubmed/26507178 0 12 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12285 12285 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20936 female "" "" European "" 20936 MRI 2024-08-30 08:13:24 UTC 26507178 http://rdf.ncbi.nlm.nih.gov/pubmed/26507178 0 0 T2w saggital (5 days postnatal) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12285 12285 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20937 female "" "" European "" 20937 MRI 2024-08-30 08:13:10 UTC 26507178 http://rdf.ncbi.nlm.nih.gov/pubmed/26507178 0 0 T2w axial (5 days postnatal) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12285 12285 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20938 female "" "" European "" 20938 MRI 2024-08-30 08:14:45 UTC 26507178 http://rdf.ncbi.nlm.nih.gov/pubmed/26507178 0 0 T2w saggital, intrauterine gestational week 30 NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12285 12285 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20939 female "" "" European "" 20939 MRI 2024-08-30 08:15:32 UTC 26507178 http://rdf.ncbi.nlm.nih.gov/pubmed/26507178 0 0 T2w, axial, intrauterine gestational week 30 NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12285 12285 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20940 female "" "" European "" 20940 MRI 2024-08-30 08:16:17 UTC 26507178 http://rdf.ncbi.nlm.nih.gov/pubmed/26507178 0 0 T2w saggittal, intrauterine gestational week 20 NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12285 12285 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20941 female "" "" European "" 20941 MRI 2024-08-30 08:16:59 UTC 26507178 http://rdf.ncbi.nlm.nih.gov/pubmed/26507178 0 0 T2w axial, intraunterine, gestational week 20 NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12286 12286 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20942 male "" "" European "" 20942 MRI 2024-08-30 09:36:40 UTC 36068432 http://rdf.ncbi.nlm.nih.gov/pubmed/36068432 3 0 T2w saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12286 12286 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20943 male "" "" European "" 20943 MRI 2024-08-30 09:37:13 UTC 36068432 http://rdf.ncbi.nlm.nih.gov/pubmed/36068432 3 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12286 12286 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20944 male "" "" European "" 20944 MRI 2024-08-30 09:40:14 UTC 36068432 http://rdf.ncbi.nlm.nih.gov/pubmed/36068432 3 0 T2w coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12286 12286 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20945 male "" "" European "" 20945 MRI 2024-08-30 09:40:48 UTC 36068432 http://rdf.ncbi.nlm.nih.gov/pubmed/36068432 3 0 T2w coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12286 12286 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20946 male "" "" European "" 20946 MRI 2024-08-30 09:41:27 UTC 36068432 http://rdf.ncbi.nlm.nih.gov/pubmed/36068432 0 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12287 12287 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20947 male "" "" European "" 20947 MRI 2024-08-30 09:48:10 UTC 36068432 http://rdf.ncbi.nlm.nih.gov/pubmed/36068432 15 0 T2w (3D DRIVE), saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12287 12287 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20948 male "" "" European "" 20948 MRI 2024-08-30 09:49:44 UTC 36068432 http://rdf.ncbi.nlm.nih.gov/pubmed/36068432 15 0 T1w coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12287 12287 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20949 male "" "" European "" 20949 MRI 2024-08-30 09:49:11 UTC 36068432 http://rdf.ncbi.nlm.nih.gov/pubmed/36068432 15 0 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12287 12287 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20950 male "" "" European "" 20950 MRI 2024-08-30 09:49:34 UTC 36068432 http://rdf.ncbi.nlm.nih.gov/pubmed/36068432 15 0 T2w, axial NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12380 12380 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21122 male "" "" African - Sub-Saharan "" 21122 Frontal face 2024-09-21 16:19:34 UTC 25722758 http://rdf.ncbi.nlm.nih.gov/pubmed/25722758 0 0 child NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12380 12380 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21123 male "" "" African - Sub-Saharan "" 21123 Profile 2024-09-21 16:19:54 UTC 25722758 http://rdf.ncbi.nlm.nih.gov/pubmed/25722758 0 0 child NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12380 12380 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21124 male "" "" African - Sub-Saharan "" 21124 Limbs 2024-09-21 16:20:14 UTC 25722758 http://rdf.ncbi.nlm.nih.gov/pubmed/25722758 0 0 child NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/12383 12383 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_21127 unknown "" "" African - Sub-Saharan "" 21127 Frontal face 2024-09-21 16:59:23 UTC 25722758 http://rdf.ncbi.nlm.nih.gov/pubmed/25722758 0 0 child NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/12383 12383 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_21127 unknown "" "" African - Sub-Saharan "" 21127 Frontal face 2024-09-21 16:59:23 UTC 25722758 http://rdf.ncbi.nlm.nih.gov/pubmed/25722758 0 0 child NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12390 12390 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21150 male "" "" Caucasian "" 21150 Profile 2024-09-24 13:05:50 UTC 11453976 http://rdf.ncbi.nlm.nih.gov/pubmed/11453976 0 0 <1 year NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12392 12392 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21159 male "" "" European "" 21159 Frontal face 2024-09-24 13:43:34 UTC 1463008 http://rdf.ncbi.nlm.nih.gov/pubmed/1463008 0 1 15d NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12392 12392 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21160 male "" "" European "" 21160 Profile 2024-09-24 13:43:48 UTC 1463008 http://rdf.ncbi.nlm.nih.gov/pubmed/1463008 0 1 15d NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12405 12405 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21189 female "" "" Asian - West/Middle Eastern "" 21189 MRI 2024-09-27 07:47:39 UTC 35210871 http://rdf.ncbi.nlm.nih.gov/pubmed/35210871 0 0 sagittal T2w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12405 12405 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21190 female "" "" Asian - West/Middle Eastern "" 21190 MRI 2024-09-27 07:48:01 UTC 35210871 http://rdf.ncbi.nlm.nih.gov/pubmed/35210871 0 0 axial t2w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12405 12405 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21191 female "" "" Asian - West/Middle Eastern "" 21191 MRI 2024-09-27 07:48:27 UTC 35210871 http://rdf.ncbi.nlm.nih.gov/pubmed/35210871 0 0 axial t2w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12406 12406 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21192 male "" "" Arab "" 21192 MRI 2024-09-27 07:58:21 UTC 38113564 http://rdf.ncbi.nlm.nih.gov/pubmed/38113564 0 0 sagittal t1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12406 12406 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21193 male "" "" Arab "" 21193 MRI 2024-09-27 07:58:51 UTC 38113564 http://rdf.ncbi.nlm.nih.gov/pubmed/38113564 0 0 axial t1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12406 12406 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21194 male "" "" Arab "" 21194 MRI 2024-09-27 07:59:13 UTC 38113564 http://rdf.ncbi.nlm.nih.gov/pubmed/38113564 0 0 axial t1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12406 12406 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21195 male "" "" Arab "" 21195 MRI 2024-09-27 07:59:39 UTC 38113564 http://rdf.ncbi.nlm.nih.gov/pubmed/38113564 0 0 t1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12406 12406 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21196 male "" "" Arab "" 21196 MRI 2024-09-27 07:59:58 UTC 38113564 http://rdf.ncbi.nlm.nih.gov/pubmed/38113564 0 0 axial t1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12409 12409 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21204 male "" "" European - Eastern "" 21204 MRI 2024-09-27 09:52:22 UTC 29250689 http://rdf.ncbi.nlm.nih.gov/pubmed/29250689 5 0 coronal t1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12409 12409 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21205 male "" "" European - Eastern "" 21205 Frontal face 2024-09-27 09:52:56 UTC 29250689 http://rdf.ncbi.nlm.nih.gov/pubmed/29250689 5 0 T1w coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12409 12409 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21206 male "" "" European - Eastern "" 21206 MRI 2024-09-27 09:53:19 UTC 29250689 http://rdf.ncbi.nlm.nih.gov/pubmed/29250689 5 0 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12409 12409 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21207 male "" "" European - Eastern "" 21207 MRI 2024-09-27 09:53:52 UTC 29250689 http://rdf.ncbi.nlm.nih.gov/pubmed/29250689 5 0 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12412 12412 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21215 male "" "" Asian "" 21215 MRI 2024-09-29 06:35:49 UTC 31567478 http://rdf.ncbi.nlm.nih.gov/pubmed/31567478 6 0 Axial T1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12412 12412 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21216 male "" "" Asian "" 21216 MRI 2024-09-29 06:36:27 UTC 31567478 http://rdf.ncbi.nlm.nih.gov/pubmed/31567478 6 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12412 12412 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21217 male "" "" Asian "" 21217 MRI 2024-09-29 06:39:23 UTC 31567478 http://rdf.ncbi.nlm.nih.gov/pubmed/31567478 6 0 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12412 12412 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21218 male "" "" Asian "" 21218 MRI 2024-09-29 06:39:34 UTC 31567478 http://rdf.ncbi.nlm.nih.gov/pubmed/31567478 6 0 T1w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12412 12412 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21219 male "" "" Asian "" 21219 Frontal face 2024-09-29 06:38:49 UTC 31567478 http://rdf.ncbi.nlm.nih.gov/pubmed/31567478 6 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12412 12412 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21220 male "" "" Asian "" 21220 MRI 2024-09-29 06:39:10 UTC 31567478 http://rdf.ncbi.nlm.nih.gov/pubmed/31567478 6 0 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12427 12427 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21253 male "" "" Asian - South/Indian "" 21253 MRI 2024-10-05 14:23:17 UTC 35755510 http://rdf.ncbi.nlm.nih.gov/pubmed/35755510 8 0 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12427 12427 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21254 male "" "" Asian - South/Indian "" 21254 MRI 2024-10-05 14:23:39 UTC 35755510 http://rdf.ncbi.nlm.nih.gov/pubmed/35755510 8 0 T1w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12427 12427 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21255 male "" "" Asian - South/Indian "" 21255 MRI 2024-10-05 14:24:00 UTC 35755510 http://rdf.ncbi.nlm.nih.gov/pubmed/35755510 8 0 T2w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12433 12433 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21269 male "" "" African - North "" 21269 MRI 2024-10-07 06:57:48 UTC 38264175 http://rdf.ncbi.nlm.nih.gov/pubmed/38264175 7 0 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12433 12433 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21270 male "" "" African - North "" 21270 MRI 2024-10-07 06:58:19 UTC 38264175 http://rdf.ncbi.nlm.nih.gov/pubmed/38264175 7 0 T1w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12433 12433 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21271 male "" "" African - North "" 21271 MRI 2024-10-07 06:58:46 UTC 38264175 http://rdf.ncbi.nlm.nih.gov/pubmed/38264175 7 0 T1w, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12434 12434 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21272 female "" "" Arab "" 21272 MRI 2024-10-07 07:12:27 UTC 38196410 http://rdf.ncbi.nlm.nih.gov/pubmed/38196410 1 6 T2w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12434 12434 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21273 female "" "" Arab "" 21273 MRI 2024-10-07 07:12:55 UTC 38196410 http://rdf.ncbi.nlm.nih.gov/pubmed/38196410 1 6 T2w axial NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12073 12073 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20532 male "" "" Asian - West/Middle Eastern "" 20532 Frontal face 2024-08-06 13:40:12 UTC 32003054 http://rdf.ncbi.nlm.nih.gov/pubmed/32003054 36 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12075 12075 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20534 male "" "" Caucasian "" 20534 Frontal face 2024-08-07 07:09:57 UTC 4249308 http://rdf.ncbi.nlm.nih.gov/pubmed/4249308 0 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12086 12086 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20557 female "" "" European "" 20557 Profile 2024-08-11 15:02:00 UTC 12689705 http://rdf.ncbi.nlm.nih.gov/pubmed/12689705 4 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12133 12133 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20671 unknown "" "" Asian - South/Indian "" 20671 Frontal face 2024-08-15 12:34:23 UTC 24127006 http://rdf.ncbi.nlm.nih.gov/pubmed/24127006 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12134 12134 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20672 unknown "" "" Asian - South/Indian "" 20672 Frontal face 2024-08-15 12:48:47 UTC 24127006 http://rdf.ncbi.nlm.nih.gov/pubmed/24127006 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12135 12135 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20673 unknown "" "" Asian - South/Indian "" 20673 Frontal face 2024-08-15 12:50:40 UTC 24127006 http://rdf.ncbi.nlm.nih.gov/pubmed/24127006 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12137 12137 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20674 unknown "" "" Asian - South/Indian "" 20674 Frontal face 2024-08-15 12:52:50 UTC 24127006 http://rdf.ncbi.nlm.nih.gov/pubmed/24127006 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12138 12138 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20675 unknown "" "" Asian - South/Indian "" 20675 Frontal face 2024-08-15 12:53:43 UTC 24127006 http://rdf.ncbi.nlm.nih.gov/pubmed/24127006 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12139 12139 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20676 unknown "" "" Asian - South/Indian "" 20676 Frontal face 2024-08-15 12:54:47 UTC 24127006 http://rdf.ncbi.nlm.nih.gov/pubmed/24127006 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12150 12150 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20688 female "" "" American - African/Black "" 20688 Frontal face 2024-08-16 12:35:51 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 10 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12150 12150 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20689 female "" "" American - African/Black "" 20689 Profile 2024-08-16 12:35:59 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 10 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12151 12151 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20690 female "" "" American - African/Black "" 20690 Frontal face 2024-08-16 12:37:42 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 2 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12151 12151 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20691 female "" "" American - African/Black "" 20691 Profile 2024-08-16 12:37:51 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 2 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12152 12152 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20692 female "" "" American - African/Black "" 20692 Frontal face 2024-08-16 12:40:25 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 5 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12152 12152 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20693 female "" "" American - African/Black "" 20693 Profile 2024-08-16 13:08:09 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 5 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12153 12153 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20694 female "" "" American - African/Black "" 20694 Frontal face 2024-08-16 13:09:45 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 13 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12153 12153 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20695 female "" "" American - African/Black "" 20695 Profile 2024-08-16 13:10:13 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 13 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12164 12164 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20716 male "" "" African "" 20716 Frontal face 2024-08-16 13:42:43 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 10 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12164 12164 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20717 male "" "" African "" 20717 Profile 2024-08-16 13:42:54 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 10 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12165 12165 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20718 male "" "" African "" 20718 Frontal face 2024-08-16 13:44:07 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12166 12166 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20719 male "" "" African "" 20719 Frontal face 2024-08-16 13:44:53 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12166 12166 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20720 male "" "" African "" 20720 Profile 2024-08-16 13:45:01 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12167 12167 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20721 male "" "" African "" 20721 Frontal face 2024-08-16 13:45:50 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 8 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12168 12168 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20722 female "" "" African "" 20722 Frontal face 2024-08-16 13:46:44 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 9 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12169 12169 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20723 female "" "" African "" 20723 Frontal face 2024-08-16 13:48:34 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 4 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12170 12170 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20724 female "" "" African "" 20724 Frontal face 2024-08-16 13:49:17 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12170 12170 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20725 female "" "" African "" 20725 Profile 2024-08-16 13:49:42 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12171 12171 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20726 male "" "" African "" 20726 Frontal face 2024-08-16 13:51:27 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12171 12171 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20727 male "" "" African "" 20727 Profile 2024-08-16 13:51:36 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12172 12172 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20728 female "" "" African "" 20728 Frontal face 2024-08-16 13:54:11 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12172 12172 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20729 female "" "" African "" 20729 Profile 2024-08-16 13:54:23 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12173 12173 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20730 male "" "" African "" 20730 Frontal face 2024-08-16 13:55:07 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12173 12173 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20731 male "" "" African "" 20731 Profile 2024-08-16 13:55:13 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12174 12174 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20732 male "" "" African "" 20732 Frontal face 2024-08-16 13:56:04 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12174 12174 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20733 male "" "" African "" 20733 Profile 2024-08-16 13:56:22 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12179 12179 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20738 male "" "" Asian "" 20738 Frontal face 2024-08-20 10:48:46 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12180 12180 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20739 male "" "" Asian "" 20739 Frontal face 2024-08-20 10:49:32 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 2 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12181 12181 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20740 female "" "" Asian "" 20740 Frontal face 2024-08-20 10:47:48 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 8 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12183 12183 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20743 male "" "" Asian "" 20743 Frontal face 2024-08-20 10:53:35 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 11 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12183 12183 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20744 male "" "" Asian "" 20744 Profile 2024-08-20 10:54:12 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 11 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12184 12184 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20745 female "" "" Asian "" 20745 Frontal face 2024-08-20 10:55:49 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 2 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12185 12185 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20746 male "" "" Asian "" 20746 Frontal face 2024-08-20 10:57:49 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12185 12185 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20747 male "" "" Asian "" 20747 Frontal face 2024-08-20 10:58:08 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 6 3 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12186 12186 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20748 male "" "" Asian "" 20748 Frontal face 2024-08-20 10:59:08 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12186 12186 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20749 male "" "" Asian "" 20749 Frontal face 2024-08-20 11:00:50 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 6 3 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12187 12187 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20750 female "" "" Asian "" 20750 Frontal face 2024-08-20 11:02:42 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 3 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12187 12187 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20751 female "" "" Asian "" 20751 Profile 2024-08-20 11:03:25 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 3 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12188 12188 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20752 female "" "" Asian "" 20752 Frontal face 2024-08-20 11:05:42 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 9 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12188 12188 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20753 female "" "" Asian "" 20753 Profile 2024-08-20 11:05:49 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 9 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12189 12189 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20754 male "" "" Asian "" 20754 Frontal face 2024-08-20 11:08:03 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 1 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12189 12189 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20755 male "" "" Asian "" 20755 Profile 2024-08-20 11:08:18 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 1 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12190 12190 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20756 male "" "" Asian "" 20756 Frontal face 2024-08-20 11:10:13 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 9 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12190 12190 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20757 male "" "" Asian "" 20757 Profile 2024-08-20 11:10:26 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 9 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12191 12191 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20758 male "" "" Asian "" 20758 Frontal face 2024-08-20 11:12:24 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12191 12191 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20759 male "" "" Asian "" 20759 Profile 2024-08-20 11:12:36 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12192 12192 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20760 male "" "" Asian "" 20760 Frontal face 2024-08-20 11:13:35 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 15 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12192 12192 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20761 male "" "" Asian "" 20761 Profile 2024-08-20 11:13:42 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 15 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12193 12193 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20762 male "" "" Asian - East "" 20762 Frontal face 2024-08-20 11:15:07 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 6 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12194 12194 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20763 female "" "" Asian - South/Indian "" 20763 Frontal face 2024-08-20 11:16:45 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 5 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12195 12195 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20764 male "" "" Asian - South/Indian "" 20764 Frontal face 2024-08-20 11:19:47 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 1 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12196 12196 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20765 male "" "" Asian - South/Indian "" 20765 Frontal face 2024-08-20 11:21:27 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 20 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12196 12196 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20766 male "" "" Asian - South/Indian "" 20766 Profile 2024-08-20 11:21:45 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 20 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12197 12197 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20767 male "" "" Asian - South/Indian "" 20767 Frontal face 2024-08-20 11:27:39 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 13 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12197 12197 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20768 male "" "" Asian - South/Indian "" 20768 Profile 2024-08-20 11:27:49 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 12 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12198 12198 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20769 female "" "" Asian - South/Indian "" 20769 Frontal face 2024-08-20 11:30:50 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 1 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12198 12198 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20770 female "" "" Asian - South/Indian "" 20770 Profile 2024-08-20 11:31:01 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 1 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12199 12199 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20771 female "" "" Asian - South/Indian "" 20771 Frontal face 2024-08-20 11:31:44 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 1 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12200 12200 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20772 male "" "" Asian - South/Indian "" 20772 Frontal face 2024-08-20 11:32:33 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 2 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12200 12200 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20773 male "" "" Asian - South/Indian "" 20773 Profile 2024-08-20 11:32:41 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 2 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12201 12201 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20774 female "" "" Asian - South/Indian "" 20774 Frontal face 2024-08-20 11:33:56 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 6 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12201 12201 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20775 female "" "" Asian - South/Indian "" 20775 Profile 2024-08-20 11:34:07 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 6 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12202 12202 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20776 male "" "" Asian - East "" 20776 Frontal face 2024-08-20 11:35:28 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12202 12202 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20777 male "" "" Asian - East "" 20777 Profile 2024-08-20 11:35:53 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12204 12204 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20778 female "" "" Asian - East "" 20778 Frontal face 2024-08-20 11:36:40 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 12 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12204 12204 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20781 female "" "" Asian - East "" 20781 Profile 2024-08-20 13:39:55 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 12 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12206 12206 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20782 female "" "" Asian - East "" 20782 Frontal face 2024-08-20 13:43:26 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 6 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12206 12206 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20783 female "" "" Asian - East "" 20783 Profile 2024-08-20 13:43:35 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 6 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12207 12207 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20784 male "" "" Asian - East "" 20784 Frontal face 2024-08-20 13:44:46 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 16 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12207 12207 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20785 male "" "" Asian - East "" 20785 Profile 2024-08-20 13:45:01 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 16 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12208 12208 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20786 female "" "" Asian - East "" 20786 Frontal face 2024-08-20 13:51:57 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 3 5 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12208 12208 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20787 female "" "" Asian - East "" 20787 Profile 2024-08-20 13:52:15 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 3 5 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12209 12209 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20788 male "" "" Asian - East "" 20788 Frontal face 2024-08-20 13:58:47 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 18 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12209 12209 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20789 male "" "" Asian - East "" 20789 Profile 2024-08-20 13:58:54 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 18 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12210 12210 DOWN 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http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 20 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12211 12211 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20794 female "" "" Asian - East "" 20794 Profile 2024-08-20 14:04:03 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 20 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12204 12204 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20812 female "" "" Asian - East "" 20812 Frontal face 2024-08-21 07:39:20 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12204 12204 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20813 female "" "" Asian - East "" 20813 Frontal face 2024-08-21 07:39:33 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12204 12204 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20814 female "" "" Asian - East "" 20814 Frontal face 2024-08-21 07:39:47 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12204 12204 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20815 female "" "" Asian - East "" 20815 Frontal face 2024-08-21 07:40:03 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12204 12204 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20816 female "" "" Asian - East "" 20816 Frontal face 2024-08-21 07:40:47 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12204 12204 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20817 female "" "" Asian - East "" 20817 Frontal face 2024-08-21 07:41:00 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12206 12206 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20818 female "" "" Asian - East "" 20818 Frontal face 2024-08-21 07:42:40 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12206 12206 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20819 female "" "" Asian - East "" 20819 Frontal face 2024-08-21 07:42:50 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12206 12206 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20820 female "" "" Asian - East "" 20820 Frontal face 2024-08-21 07:43:00 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12206 12206 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20821 female "" "" Asian - East "" 20821 Frontal face 2024-08-21 07:43:20 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12206 12206 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20822 female "" "" Asian - East "" 20822 Frontal face 2024-08-21 07:43:43 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12206 12206 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20823 female "" "" Asian - East "" 20823 Frontal face 2024-08-21 07:43:47 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12207 12207 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20824 male "" "" Asian - 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OMIM:190685 https://db.gestaltmatcher.org/patients/12207 12207 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20828 male "" "" Asian - East "" 20828 Frontal face 2024-08-21 07:45:24 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12208 12208 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20829 female "" "" Asian - East "" 20829 Frontal face 2024-08-21 07:45:58 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12208 12208 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20830 female "" "" Asian - East "" 20830 Frontal face 2024-08-21 07:46:07 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12208 12208 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20831 female "" "" Asian - East "" 20831 Frontal face 2024-08-21 07:46:18 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12208 12208 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20832 female "" "" Asian - East "" 20832 Frontal face 2024-08-21 07:46:24 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12208 12208 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20833 female "" "" Asian - East "" 20833 Frontal face 2024-08-21 07:46:38 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12208 12208 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20834 female "" "" Asian - East "" 20834 Frontal face 2024-08-21 07:46:41 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12208 12208 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20835 female "" "" Asian - East "" 20835 Frontal face 2024-08-21 07:46:51 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12182 12182 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20836 female "" "" Asian "" 20836 Frontal face 2024-08-21 07:47:58 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12182 12182 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20837 female "" "" Asian "" 20837 Frontal face 2024-08-21 07:48:11 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12182 12182 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20838 female "" "" Asian "" 20838 Frontal face 2024-08-21 07:48:25 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 12 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12182 12182 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20839 female "" "" Asian "" 20839 Profile 2024-08-21 07:48:34 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 12 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12231 12231 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20850 male "" "" Caucasian "" 20850 Frontal face 2024-08-22 12:51:39 UTC 4174475 http://rdf.ncbi.nlm.nih.gov/pubmed/4174475 2 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12231 12231 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20850 male "" "" Caucasian "" 20850 Frontal face 2024-08-22 12:51:39 UTC 4174475 http://rdf.ncbi.nlm.nih.gov/pubmed/4174475 2 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12231 12231 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20851 male "" "" Caucasian "" 20851 Frontal face 2024-08-22 12:51:51 UTC 4174475 http://rdf.ncbi.nlm.nih.gov/pubmed/4174475 0 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12231 12231 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20851 male "" "" Caucasian "" 20851 Frontal face 2024-08-22 12:51:51 UTC 4174475 http://rdf.ncbi.nlm.nih.gov/pubmed/4174475 0 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12235 12235 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20856 male "" "" Asian "" 20856 Frontal face 2024-08-23 11:38:46 UTC 20537070 http://rdf.ncbi.nlm.nih.gov/pubmed/20537070 8 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12235 12235 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20856 male "" "" Asian "" 20856 Frontal face 2024-08-23 11:38:46 UTC 20537070 http://rdf.ncbi.nlm.nih.gov/pubmed/20537070 8 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12236 12236 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20857 male "" "" Asian "" 20857 Frontal face 2024-08-23 11:47:23 UTC 20537070 http://rdf.ncbi.nlm.nih.gov/pubmed/20537070 6 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12236 12236 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20857 male "" "" Asian "" 20857 Frontal face 2024-08-23 11:47:23 UTC 20537070 http://rdf.ncbi.nlm.nih.gov/pubmed/20537070 6 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12243 12243 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20870 female "" "" Caucasian "" 20870 Frontal face 2024-08-25 07:59:51 UTC 3655026 http://rdf.ncbi.nlm.nih.gov/pubmed/3655026 1 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12243 12243 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20870 female "" "" Caucasian "" 20870 Frontal face 2024-08-25 07:59:51 UTC 3655026 http://rdf.ncbi.nlm.nih.gov/pubmed/3655026 1 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12245 12245 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20872 male "" "" Caucasian "" 20872 Frontal face 2024-08-25 08:08:17 UTC 3655026 http://rdf.ncbi.nlm.nih.gov/pubmed/3655026 27 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12245 12245 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20872 male "" "" Caucasian "" 20872 Frontal face 2024-08-25 08:08:17 UTC 3655026 http://rdf.ncbi.nlm.nih.gov/pubmed/3655026 27 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12245 12245 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20873 male "" "" Caucasian "" 20873 Frontal face 2024-08-25 08:08:29 UTC 3655026 http://rdf.ncbi.nlm.nih.gov/pubmed/3655026 27 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12245 12245 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20873 male "" "" Caucasian "" 20873 Frontal face 2024-08-25 08:08:29 UTC 3655026 http://rdf.ncbi.nlm.nih.gov/pubmed/3655026 27 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12246 12246 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20874 female "" "" Asian - South/Indian "" 20874 Frontal face 2024-08-25 08:50:39 UTC 15804305 http://rdf.ncbi.nlm.nih.gov/pubmed/15804305 10 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12246 12246 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20874 female "" "" Asian - South/Indian "" 20874 Frontal face 2024-08-25 08:50:39 UTC 15804305 http://rdf.ncbi.nlm.nih.gov/pubmed/15804305 10 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12248 12248 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20876 male "" "" Jewish - Ashkenazi "" 20876 Frontal face 2024-08-25 09:42:34 UTC 14977768 http://rdf.ncbi.nlm.nih.gov/pubmed/14977768 39 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12248 12248 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20876 male "" "" Jewish - Ashkenazi "" 20876 Frontal face 2024-08-25 09:42:34 UTC 14977768 http://rdf.ncbi.nlm.nih.gov/pubmed/14977768 39 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12257 12257 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20889 male "" "" Asian - South/Indian "" 20889 Frontal face 2024-08-26 12:45:48 UTC 11095195 http://rdf.ncbi.nlm.nih.gov/pubmed/11095195 6 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12257 12257 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20889 male "" "" Asian - South/Indian "" 20889 Frontal face 2024-08-26 12:45:48 UTC 11095195 http://rdf.ncbi.nlm.nih.gov/pubmed/11095195 6 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12257 12257 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20890 male "" "" Asian - South/Indian "" 20890 Frontal face 2024-08-26 12:46:04 UTC 11095195 http://rdf.ncbi.nlm.nih.gov/pubmed/11095195 6 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12257 12257 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20890 male "" "" Asian - South/Indian "" 20890 Frontal face 2024-08-26 12:46:04 UTC 11095195 http://rdf.ncbi.nlm.nih.gov/pubmed/11095195 6 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12303 12303 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20977 female "" "" European "" 20977 Frontal face 2024-09-01 18:37:57 UTC 6573304 http://rdf.ncbi.nlm.nih.gov/pubmed/6573304 4 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12303 12303 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20977 female "" "" European "" 20977 Frontal face 2024-09-01 18:37:57 UTC 6573304 http://rdf.ncbi.nlm.nih.gov/pubmed/6573304 4 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12387 12387 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21144 male "" "" Asian "" 21144 Frontal face 2024-09-24 11:21:18 UTC 23559333 http://rdf.ncbi.nlm.nih.gov/pubmed/23559333 0 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12387 12387 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21145 male "" "" Asian "" 21145 Frontal face 2024-09-24 11:22:09 UTC 23559333 http://rdf.ncbi.nlm.nih.gov/pubmed/23559333 0 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12388 12388 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21146 female "" "" Caucasian "" 21146 Frontal face 2024-09-24 12:00:24 UTC 6210775 http://rdf.ncbi.nlm.nih.gov/pubmed/6210775 3 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12388 12388 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21147 female "" "" Caucasian "" 21147 Frontal face 2024-09-24 12:01:56 UTC 6210775 http://rdf.ncbi.nlm.nih.gov/pubmed/6210775 3 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12390 12390 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21151 male "" "" Caucasian "" 21151 Profile 2024-09-24 13:06:09 UTC 11453976 http://rdf.ncbi.nlm.nih.gov/pubmed/11453976 2 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12390 12390 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21152 male "" "" Caucasian "" 21152 Frontal face 2024-09-24 13:06:43 UTC 11453976 http://rdf.ncbi.nlm.nih.gov/pubmed/11453976 6 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12390 12390 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21153 male "" "" Caucasian "" 21153 Frontal face 2024-09-24 13:07:06 UTC 11453976 http://rdf.ncbi.nlm.nih.gov/pubmed/11453976 16 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12390 12390 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21154 male "" "" Caucasian "" 21154 Frontal face 2024-09-24 13:07:21 UTC 11453976 http://rdf.ncbi.nlm.nih.gov/pubmed/11453976 28 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12390 12390 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21155 male "" "" Caucasian "" 21155 Frontal face 2024-09-24 13:07:33 UTC 11453976 http://rdf.ncbi.nlm.nih.gov/pubmed/11453976 35 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12390 12390 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21156 male "" "" Caucasian "" 21156 Profile 2024-09-24 13:07:45 UTC 11453976 http://rdf.ncbi.nlm.nih.gov/pubmed/11453976 35 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12391 12391 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21157 female "" "" European - Southern "" 21157 Profile 2024-09-24 13:33:39 UTC 1463008 http://rdf.ncbi.nlm.nih.gov/pubmed/1463008 0 1 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12391 12391 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21158 female "" "" European - Southern "" 21158 Frontal face 2024-09-24 13:34:01 UTC 1463008 http://rdf.ncbi.nlm.nih.gov/pubmed/1463008 9 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12393 12393 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21161 female "" "" European "" 21161 Frontal face 2024-09-24 13:53:04 UTC 1463008 http://rdf.ncbi.nlm.nih.gov/pubmed/1463008 27 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12393 12393 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21162 female "" "" European "" 21162 Profile 2024-09-24 13:53:15 UTC 1463008 http://rdf.ncbi.nlm.nih.gov/pubmed/1463008 27 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12394 12394 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21163 male "" "" European "" 21163 Frontal face 2024-09-24 14:19:00 UTC 2951317 http://rdf.ncbi.nlm.nih.gov/pubmed/2951317 1 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12394 12394 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21164 male "" "" European "" 21164 Profile 2024-09-24 14:19:14 UTC 2951317 http://rdf.ncbi.nlm.nih.gov/pubmed/2951317 1 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12394 12394 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21165 male "" "" European "" 21165 Limbs 2024-09-24 14:19:33 UTC 2951317 http://rdf.ncbi.nlm.nih.gov/pubmed/2951317 1 6 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12395 12395 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21166 female "" "" Asian - South/Indian "" 21166 Frontal face 2024-09-24 14:30:41 UTC 8792823 http://rdf.ncbi.nlm.nih.gov/pubmed/8792823 1 2 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12396 12396 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21167 female "" "" European "" 21167 Frontal face 2024-09-24 14:48:00 UTC 143445 http://rdf.ncbi.nlm.nih.gov/pubmed/143445 25 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12409 12409 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21202 male "" "" European - Eastern "" 21202 Frontal face 2024-09-27 09:51:22 UTC 29250689 http://rdf.ncbi.nlm.nih.gov/pubmed/29250689 5 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12409 12409 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21203 male "" "" European - Eastern "" 21203 Others 2024-09-27 09:51:46 UTC 29250689 http://rdf.ncbi.nlm.nih.gov/pubmed/29250689 5 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12441 12441 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21298 female "" "" Asian - South/Indian "" 21298 Frontal face 2024-10-07 16:16:20 UTC 35706619 http://rdf.ncbi.nlm.nih.gov/pubmed/35706619 20 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12441 12441 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21299 female "" "" Asian - South/Indian "" 21299 Profile 2024-10-07 16:16:33 UTC 35706619 http://rdf.ncbi.nlm.nih.gov/pubmed/35706619 20 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12105 12105 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20597 female "" "" Caucasian "" 20597 Frontal face 2024-08-12 15:13:24 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12105 12105 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20597 female "" "" Caucasian "" 20597 Frontal face 2024-08-12 15:13:24 UTC "" "" 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12105 12105 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20598 female "" "" Caucasian "" 20598 Profile 2024-08-12 15:13:40 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12105 12105 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20598 female "" "" Caucasian "" 20598 Profile 2024-08-12 15:13:40 UTC "" "" 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12106 12106 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20599 male "" "" Caucasian "" 20599 Frontal face 2024-08-12 15:51:11 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12106 12106 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20599 male "" "" Caucasian "" 20599 Frontal face 2024-08-12 15:51:11 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12106 12106 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20600 male "" "" Caucasian "" 20600 Profile 2024-08-12 15:51:26 UTC "" "" 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12106 12106 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20600 male "" "" Caucasian "" 20600 Profile 2024-08-12 15:51:26 UTC "" "" 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12108 12108 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20602 female "" "" European - Eastern "" 20602 Frontal face 2024-08-12 16:01:09 UTC "" "" 2 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12108 12108 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20602 female "" "" European - Eastern "" 20602 Frontal face 2024-08-12 16:01:09 UTC "" "" 2 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12108 12108 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20603 female "" "" European - Eastern "" 20603 Profile 2024-08-12 16:01:21 UTC "" "" 2 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12108 12108 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20603 female "" "" European - Eastern "" 20603 Profile 2024-08-12 16:01:21 UTC "" "" 2 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12095 12095 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20583 unknown "" "" "" "" 20583 MRI 2024-08-11 18:59:26 UTC 12879343 http://rdf.ncbi.nlm.nih.gov/pubmed/12879343 0 0 T2w, saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12096 12096 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20584 unknown "" "" "" "" 20584 MRI 2024-08-11 18:59:01 UTC 12879343 http://rdf.ncbi.nlm.nih.gov/pubmed/12879343 0 0 T2w, saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12097 12097 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20585 unknown "" "" "" "" 20585 MRI 2024-08-11 18:58:37 UTC 12879343 http://rdf.ncbi.nlm.nih.gov/pubmed/12879343 0 0 T1w, saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12098 12098 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20586 unknown "" "" "" "" 20586 MRI 2024-08-11 18:58:04 UTC 12879343 http://rdf.ncbi.nlm.nih.gov/pubmed/12879343 0 0 T1w saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12225 12225 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20844 unknown "" "" "" "" 20844 MRI 2024-08-21 20:12:01 UTC 15338008 http://rdf.ncbi.nlm.nih.gov/pubmed/15338008 0 0 T1w saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12226 12226 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20845 unknown "" "" "" "" 20845 MRI 2024-08-21 20:13:46 UTC 15338008 http://rdf.ncbi.nlm.nih.gov/pubmed/15338008 0 0 T1w saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12227 12227 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20846 unknown "" "" "" "" 20846 MRI 2024-08-21 20:15:56 UTC 15338008 http://rdf.ncbi.nlm.nih.gov/pubmed/15338008 0 0 T1w saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12228 12228 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20847 unknown "" "" "" "" 20847 Frontal face 2024-08-21 20:17:20 UTC 15338008 http://rdf.ncbi.nlm.nih.gov/pubmed/15338008 0 0 T1w saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12229 12229 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20848 unknown "" "" "" "" 20848 MRI 2024-08-21 20:19:21 UTC 15338008 http://rdf.ncbi.nlm.nih.gov/pubmed/15338008 0 0 T1w saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12334 12334 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21028 unknown "" "" "" "" 21028 Frontal face 2024-09-06 10:15:14 UTC 19933510 http://rdf.ncbi.nlm.nih.gov/pubmed/19933510 0 0 T1w saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12336 12336 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21030 unknown "" "" "" "" 21030 MRI 2024-09-06 10:20:36 UTC 19933510 http://rdf.ncbi.nlm.nih.gov/pubmed/19933510 0 0 T1w saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12337 12337 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21031 unknown "" "" "" "" 21031 MRI 2024-09-06 10:43:38 UTC 19933510 http://rdf.ncbi.nlm.nih.gov/pubmed/19933510 0 0 T1w, saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12338 12338 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21032 unknown "" "" "" "" 21032 MRI 2024-09-06 10:44:39 UTC 19933510 http://rdf.ncbi.nlm.nih.gov/pubmed/19933510 0 0 T1w, saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12340 12340 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21035 female "" "" "" "" 21035 MRI 2024-09-08 20:55:19 UTC 29532167 http://rdf.ncbi.nlm.nih.gov/pubmed/29532167 0 0 T2w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12341 12341 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21036 male "" "" "" "" 21036 MRI 2024-09-08 21:21:49 UTC 30448844 http://rdf.ncbi.nlm.nih.gov/pubmed/30448844 22 0 T1w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12341 12341 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21037 male "" "" "" "" 21037 MRI 2024-09-08 21:22:24 UTC 30448844 http://rdf.ncbi.nlm.nih.gov/pubmed/30448844 22 0 T1w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12341 12341 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21038 male "" "" "" "" 21038 MRI 2024-09-08 21:22:53 UTC 30448844 http://rdf.ncbi.nlm.nih.gov/pubmed/30448844 22 0 T1w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12341 12341 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21039 male "" "" "" "" 21039 Frontal face 2024-09-08 21:23:26 UTC 30448844 http://rdf.ncbi.nlm.nih.gov/pubmed/30448844 22 0 T2w, coronal NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12389 12389 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21149 female "" "" "" "" 21149 Frontal face 2024-09-24 12:26:26 UTC 6445984 http://rdf.ncbi.nlm.nih.gov/pubmed/6445984 0 0 adult NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12399 12399 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21175 unknown "" "" "" "" 21175 MRI 2024-09-27 06:36:43 UTC 24132069 http://rdf.ncbi.nlm.nih.gov/pubmed/24132069 0 0 Axial T2-weighted NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12399 12399 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21176 unknown "" "" "" "" 21176 MRI 2024-09-27 06:37:11 UTC 24132069 http://rdf.ncbi.nlm.nih.gov/pubmed/24132069 0 0 Coronal T2-weighted NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12399 12399 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21177 unknown "" "" "" "" 21177 Others 2024-09-27 06:37:34 UTC 24132069 http://rdf.ncbi.nlm.nih.gov/pubmed/24132069 0 0 CT 3D surface rendering image NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12400 12400 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21178 unknown "" "" "" "" 21178 MRI 2024-09-27 07:08:41 UTC 22418964 http://rdf.ncbi.nlm.nih.gov/pubmed/22418964 0 0 Midsagittal prenatal T2-weighted NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12400 12400 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21179 unknown "" "" "" "" 21179 MRI 2024-09-27 07:09:19 UTC 22418964 http://rdf.ncbi.nlm.nih.gov/pubmed/22418964 0 0 postnatal T2-weighted NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12401 12401 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21180 unknown "" "" "" "" 21180 MRI 2024-09-27 07:13:31 UTC 22418964 http://rdf.ncbi.nlm.nih.gov/pubmed/22418964 0 0 Midsagittal prenatal T2-weighted NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12401 12401 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21181 unknown "" "" "" "" 21181 MRI 2024-09-27 07:14:07 UTC 22418964 http://rdf.ncbi.nlm.nih.gov/pubmed/22418964 0 0 postnatal T2-weighted NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12402 12402 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21182 unknown "" "" "" "" 21182 MRI 2024-09-27 07:17:11 UTC 22418964 http://rdf.ncbi.nlm.nih.gov/pubmed/22418964 0 0 postnatal T2-weighted NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12402 12402 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21183 unknown "" "" "" "" 21183 MRI 2024-09-27 07:17:41 UTC 22418964 http://rdf.ncbi.nlm.nih.gov/pubmed/22418964 0 0 prenatal T2-weighted NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12403 12403 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21184 female "" "" "" "" 21184 MRI 2024-09-27 07:25:08 UTC 19833975 http://rdf.ncbi.nlm.nih.gov/pubmed/19833975 0 0 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12403 12403 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21185 female "" "" "" "" 21185 MRI 2024-09-27 07:25:45 UTC 19833975 http://rdf.ncbi.nlm.nih.gov/pubmed/19833975 2 0 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12404 12404 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21186 female "" "" "" "" 21186 MRI 2024-09-27 07:40:39 UTC 20838490 http://rdf.ncbi.nlm.nih.gov/pubmed/20838490 0 0 T2-weighed sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12404 12404 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21187 female "" "" "" "" 21187 MRI 2024-09-27 07:41:37 UTC 20838490 http://rdf.ncbi.nlm.nih.gov/pubmed/20838490 0 0 T2-weighed axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12407 12407 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21197 male "" "" "" "" 21197 MRI 2024-09-27 08:06:36 UTC 37928178 http://rdf.ncbi.nlm.nih.gov/pubmed/37928178 0 0 Sagittal T1w NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12407 12407 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21197 male "" "" "" "" 21197 MRI 2024-09-27 08:06:36 UTC 37928178 http://rdf.ncbi.nlm.nih.gov/pubmed/37928178 0 0 Sagittal T1w NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12407 12407 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21198 male "" "" "" "" 21198 MRI 2024-09-27 08:07:04 UTC 37928178 http://rdf.ncbi.nlm.nih.gov/pubmed/37928178 0 0 Axial T2 NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12407 12407 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21198 male "" "" "" "" 21198 MRI 2024-09-27 08:07:04 UTC 37928178 http://rdf.ncbi.nlm.nih.gov/pubmed/37928178 0 0 Axial T2 NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12407 12407 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21199 male "" "" "" "" 21199 MRI 2024-09-27 08:07:24 UTC 37928178 http://rdf.ncbi.nlm.nih.gov/pubmed/37928178 0 0 Axial T2 NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12407 12407 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21199 male "" "" "" "" 21199 MRI 2024-09-27 08:07:24 UTC 37928178 http://rdf.ncbi.nlm.nih.gov/pubmed/37928178 0 0 Axial T2 NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12407 12407 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21200 male "" "" "" "" 21200 MRI 2024-09-27 08:07:42 UTC 37928178 http://rdf.ncbi.nlm.nih.gov/pubmed/37928178 0 0 Axial T1 NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12407 12407 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21200 male "" "" "" "" 21200 MRI 2024-09-27 08:07:42 UTC 37928178 http://rdf.ncbi.nlm.nih.gov/pubmed/37928178 0 0 Axial T1 NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12408 12408 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21201 unknown "" "" "" "" 21201 MRI 2024-09-27 09:31:45 UTC 30855785 http://rdf.ncbi.nlm.nih.gov/pubmed/30855785 0 0 T1w sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12410 12410 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21208 unknown "" "" "" "" 21208 MRI 2024-09-27 10:06:07 UTC 31595598 http://rdf.ncbi.nlm.nih.gov/pubmed/31595598 0 0 T2w sagittal, fetal (36+6) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12410 12410 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21210 unknown "" "" "" "" 21210 MRI 2024-09-27 10:07:00 UTC 31595598 http://rdf.ncbi.nlm.nih.gov/pubmed/31595598 0 0 sagittal T2w, fetal 25+4 NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12224 12224 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20841 unknown "" "" "" "" 20841 MRI 2024-08-21 19:16:30 UTC "" "" 0 0 T1w saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12224 12224 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_20842 unknown "" "" "" "" 20842 MRI 2024-08-21 19:17:00 UTC "" "" 0 0 T1w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12328 12328 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21022 unknown "" "" "" "" 21022 MRI 2024-09-06 08:39:03 UTC "" "" 0 0 T1w, saggital, neonatal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12329 12329 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21023 unknown "" "" "" "" 21023 MRI 2024-09-06 09:02:36 UTC "" "" 0 0 T1w, saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12330 12330 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21024 unknown "" "" "" "" 21024 MRI 2024-09-06 09:07:03 UTC "" "" 0 0 T1w, saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12331 12331 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21025 unknown "" "" "" "" 21025 MRI 2024-09-06 09:10:32 UTC "" "" 0 0 T1w, saggital NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12332 12332 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21026 unknown "" "" "" "" 21026 MRI 2024-09-06 09:12:38 UTC "" "" 0 0 T1w saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12333 12333 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21027 unknown "" "" "" "" 21027 MRI 2024-09-06 09:41:09 UTC "" "" 0 0 T1w, saggittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12339 12339 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21033 unknown "" "" "" "" 21033 MRI 2024-09-08 20:43:36 UTC "" "" 0 0 T1w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12339 12339 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21034 unknown "" "" "" "" 21034 MRI 2024-09-08 20:44:03 UTC "" "" 0 0 T1w, axial NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12072 12072 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20531 male "" "" "" "" 20531 Frontal face 2024-08-06 13:20:41 UTC 8929954 http://rdf.ncbi.nlm.nih.gov/pubmed/8929954 8 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12072 12072 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20531 male "" "" "" "" 20531 Frontal face 2024-08-06 13:20:41 UTC 8929954 http://rdf.ncbi.nlm.nih.gov/pubmed/8929954 8 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12140 12140 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20677 female "" "" "" "" 20677 Frontal face 2024-08-15 13:24:01 UTC 25412855 http://rdf.ncbi.nlm.nih.gov/pubmed/25412855 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12143 12143 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20682 female "" "" "" "" 20682 Frontal face 2024-08-16 11:04:39 UTC 25412855 http://rdf.ncbi.nlm.nih.gov/pubmed/25412855 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12144 12144 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20683 unknown "" "" "" "" 20683 Frontal face 2024-08-16 11:05:03 UTC 25412855 http://rdf.ncbi.nlm.nih.gov/pubmed/25412855 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12145 12145 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20684 unknown "" "" "" "" 20684 Frontal face 2024-08-16 11:05:27 UTC 25412855 http://rdf.ncbi.nlm.nih.gov/pubmed/25412855 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12146 12146 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20685 unknown "" "" "" "" 20685 Frontal face 2024-08-16 11:05:49 UTC 25412855 http://rdf.ncbi.nlm.nih.gov/pubmed/25412855 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12147 12147 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20686 unknown "" "" "" "" 20686 Frontal face 2024-08-16 11:06:19 UTC 25412855 http://rdf.ncbi.nlm.nih.gov/pubmed/25412855 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12148 12148 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20687 unknown "" "" "" "" 20687 Frontal face 2024-08-16 11:06:39 UTC 25412855 http://rdf.ncbi.nlm.nih.gov/pubmed/25412855 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12154 12154 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20696 female "" "" "" "" 20696 Frontal face 2024-08-16 13:12:55 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 19 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12154 12154 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20697 female "" "" "" "" 20697 Profile 2024-08-16 13:13:00 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 19 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12155 12155 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20698 male "" "" "" "" 20698 Frontal face 2024-08-16 13:13:55 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 9 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12155 12155 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20699 male "" "" "" "" 20699 Profile 2024-08-16 13:14:10 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 9 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12156 12156 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20700 male "" "" "" "" 20700 Frontal face 2024-08-16 13:24:36 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 26 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12156 12156 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20701 male "" "" "" "" 20701 Profile 2024-08-16 13:27:38 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 26 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12157 12157 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20702 female "" "" "" "" 20702 Frontal face 2024-08-16 13:28:59 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12157 12157 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20703 female "" "" "" "" 20703 Profile 2024-08-16 13:29:32 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12158 12158 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20704 female "" "" "" "" 20704 Frontal face 2024-08-16 13:31:19 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12158 12158 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20705 female "" "" "" "" 20705 Profile 2024-08-16 13:31:32 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12159 12159 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20706 male "" "" "" "" 20706 Frontal face 2024-08-16 13:33:29 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 8 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12159 12159 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20707 male "" "" "" "" 20707 Profile 2024-08-16 13:33:33 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 8 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12160 12160 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20708 female "" "" "" "" 20708 Frontal face 2024-08-16 13:34:49 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 9 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12160 12160 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20709 female "" "" "" "" 20709 Profile 2024-08-16 13:35:00 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 9 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12161 12161 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20710 male "" "" "" "" 20710 Frontal face 2024-08-16 13:36:20 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 9 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12161 12161 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20711 male "" "" "" "" 20711 Profile 2024-08-16 13:36:29 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 9 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12162 12162 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20712 male "" "" "" "" 20712 Frontal face 2024-08-16 13:37:53 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 20 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12162 12162 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20713 male "" "" "" "" 20713 Profile 2024-08-16 13:38:15 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 20 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12163 12163 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20714 male "" "" "" "" 20714 Frontal face 2024-08-16 13:39:13 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 11 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12163 12163 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20715 male "" "" "" "" 20715 Profile 2024-08-16 13:39:32 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 11 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12212 12212 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20795 male "" "" "" "" 20795 Frontal face 2024-08-20 14:12:41 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12212 12212 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_20796 male "" "" "" "" 20796 Profile 2024-08-20 14:12:50 UTC 27991738 http://rdf.ncbi.nlm.nih.gov/pubmed/27991738 14 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12244 12244 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20871 male "" "" "" "" 20871 Frontal face 2024-08-25 08:02:58 UTC 3655026 http://rdf.ncbi.nlm.nih.gov/pubmed/3655026 4 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12244 12244 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_20871 male "" "" "" "" 20871 Frontal face 2024-08-25 08:02:58 UTC 3655026 http://rdf.ncbi.nlm.nih.gov/pubmed/3655026 4 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12320 12320 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_21013 female "" "" "" "" 21013 Frontal face 2024-09-02 11:30:05 UTC 1248822 http://rdf.ncbi.nlm.nih.gov/pubmed/1248822 8 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12320 12320 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_21013 female "" "" "" "" 21013 Frontal face 2024-09-02 11:30:05 UTC 1248822 http://rdf.ncbi.nlm.nih.gov/pubmed/1248822 8 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12320 12320 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_21014 female "" "" "" "" 21014 Others 2024-09-02 11:30:26 UTC 1248822 http://rdf.ncbi.nlm.nih.gov/pubmed/1248822 8 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/12320 12320 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_21014 female "" "" "" "" 21014 Others 2024-09-02 11:30:26 UTC 1248822 http://rdf.ncbi.nlm.nih.gov/pubmed/1248822 8 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12389 12389 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_21148 female "" "" "" "" 21148 Frontal face 2024-09-24 12:26:09 UTC 6445984 http://rdf.ncbi.nlm.nih.gov/pubmed/6445984 0 5 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12404 12404 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21188 female "" "" "" "" 21188 Frontal face 2024-09-27 07:42:09 UTC 20838490 http://rdf.ncbi.nlm.nih.gov/pubmed/20838490 32 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12055 12055 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20502 male "" "" "" "" 20502 Frontal face 2024-07-31 07:22:43 UTC "" "" 16 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12055 12055 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20502 male "" "" "" "" 20502 Frontal face 2024-07-31 07:22:43 UTC "" "" 16 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12055 12055 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20503 male "" "" "" "" 20503 Profile 2024-07-31 07:22:48 UTC "" "" 16 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/12055 12055 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_20503 male "" "" "" "" 20503 Profile 2024-07-31 07:22:48 UTC "" "" 16 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12364 12364 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21089 unknown "" "" "" "" 21089 Frontal face 2024-09-14 12:40:46 UTC "" "" 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12364 12364 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21089 unknown "" "" "" "" 21089 Frontal face 2024-09-14 12:40:46 UTC "" "" 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12365 12365 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21090 unknown "" "" "" "" 21090 Frontal face 2024-09-14 12:42:45 UTC "" "" 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12365 12365 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21090 unknown "" "" "" "" 21090 Frontal face 2024-09-14 12:42:45 UTC "" "" 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12366 12366 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21091 unknown "" "" "" "" 21091 Frontal face 2024-09-14 12:43:54 UTC "" "" 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12366 12366 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21091 unknown "" "" "" "" 21091 Frontal face 2024-09-14 12:43:54 UTC "" "" 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12367 12367 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21092 unknown "" "" "" "" 21092 Frontal face 2024-09-14 12:46:01 UTC "" "" 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12367 12367 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21092 unknown "" "" "" "" 21092 Frontal face 2024-09-14 12:46:01 UTC "" "" 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12369 12369 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21094 unknown "" "" "" "" 21094 Frontal face 2024-09-14 12:58:06 UTC "" "" 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12369 12369 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21094 unknown "" "" "" "" 21094 Frontal face 2024-09-14 12:58:06 UTC "" "" 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12377 12377 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21115 unknown "" "" "" "" 21115 Frontal face 2024-09-17 16:49:25 UTC "" "" 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12377 12377 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21115 unknown "" "" "" "" 21115 Frontal face 2024-09-17 16:49:25 UTC "" "" 0 0 "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12378 12378 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21116 unknown "" "" "" "" 21116 Frontal face 2024-09-17 16:48:24 UTC "" "" 0 0 "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/12378 12378 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_21116 unknown "" "" "" "" 21116 Frontal face 2024-09-17 16:48:24 UTC "" "" 0 0 "" NANDO:1200485 MONDO:0009567 OMIM:248800 https://db.gestaltmatcher.org/patients/12727 12727 MARINESCO-SJOGREN SYNDROME https://db.gestaltmatcher.org/patients/image_22164 female SIL1 http://identifiers.org/ncbigene/64374 Asian China 22164 MRI 2024-11-08 20:09:18 UTC 25958341 http://rdf.ncbi.nlm.nih.gov/pubmed/25958341 0 0 MRI of the brain, T1-weighted images, sagittal sections, showing marked cerebellar atrophy Age unknown NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1265 1265 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1658 male ATRX http://identifiers.org/ncbigene/546 Asian - West/Middle Eastern Yemen 1658 Frontal face 2023-07-21 12:13:38 UTC 26860117 http://rdf.ncbi.nlm.nih.gov/pubmed/26860117 1 3 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1265 1265 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1658 male ATRX http://identifiers.org/ncbigene/546 Asian - West/Middle Eastern Yemen 1658 Frontal face 2023-07-21 12:13:38 UTC 26860117 http://rdf.ncbi.nlm.nih.gov/pubmed/26860117 1 3 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1266 1266 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1659 male ATRX http://identifiers.org/ncbigene/546 Asian - West/Middle Eastern Yemen 1659 Frontal face 2023-07-21 12:20:48 UTC 26860117 http://rdf.ncbi.nlm.nih.gov/pubmed/26860117 4 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1266 1266 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1659 male ATRX http://identifiers.org/ncbigene/546 Asian - West/Middle Eastern Yemen 1659 Frontal face 2023-07-21 12:20:48 UTC 26860117 http://rdf.ncbi.nlm.nih.gov/pubmed/26860117 4 0 "" NANDO:1200485 MONDO:0009567 OMIM:248800 https://db.gestaltmatcher.org/patients/12727 12727 MARINESCO-SJOGREN SYNDROME https://db.gestaltmatcher.org/patients/image_22163 female SIL1 http://identifiers.org/ncbigene/64374 Asian China 22163 Frontal face 2024-11-08 13:10:52 UTC 25958341 http://rdf.ncbi.nlm.nih.gov/pubmed/25958341 3 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12525 12525 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21536 female CWC27 http://identifiers.org/ncbigene/10283 Asian "" 21536 MRI 2024-10-18 17:05:15 UTC 38134094 http://rdf.ncbi.nlm.nih.gov/pubmed/38134094 2 2 T1w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12525 12525 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21537 female CWC27 http://identifiers.org/ncbigene/10283 Asian "" 21537 MRI 2024-10-18 17:05:49 UTC 38134094 http://rdf.ncbi.nlm.nih.gov/pubmed/38134094 2 2 T1w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12530 12530 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21568 male GLDC http://identifiers.org/ncbigene/2731 European "" 21568 MRI 2024-10-19 10:45:26 UTC 36817643 http://rdf.ncbi.nlm.nih.gov/pubmed/36817643 0 0 T1w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12530 12530 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21573 male GLDC http://identifiers.org/ncbigene/2731 European "" 21573 Others 2024-10-19 10:47:21 UTC 36817643 http://rdf.ncbi.nlm.nih.gov/pubmed/36817643 0 0 prenatal ultrasound (26 weeks) NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12712 12712 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22131 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22131 Frontal face 2024-11-05 17:07:46 UTC 27307676 http://rdf.ncbi.nlm.nih.gov/pubmed/27307676 8 0 wears a wig NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1263 1263 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1654 male ATRX http://identifiers.org/ncbigene/546 Caucasian "" 1654 Profile 2023-07-21 11:38:57 UTC 25606380 http://rdf.ncbi.nlm.nih.gov/pubmed/25606380 38 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1263 1263 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1654 male ATRX http://identifiers.org/ncbigene/546 Caucasian "" 1654 Profile 2023-07-21 11:38:57 UTC 25606380 http://rdf.ncbi.nlm.nih.gov/pubmed/25606380 38 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1263 1263 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1655 male ATRX http://identifiers.org/ncbigene/546 Caucasian "" 1655 Frontal face 2023-07-21 11:39:05 UTC 25606380 http://rdf.ncbi.nlm.nih.gov/pubmed/25606380 38 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1263 1263 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1655 male ATRX http://identifiers.org/ncbigene/546 Caucasian "" 1655 Frontal face 2023-07-21 11:39:05 UTC 25606380 http://rdf.ncbi.nlm.nih.gov/pubmed/25606380 38 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1264 1264 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1656 male ATRX http://identifiers.org/ncbigene/546 Caucasian "" 1656 Frontal face 2023-07-21 12:02:04 UTC 25606380 http://rdf.ncbi.nlm.nih.gov/pubmed/25606380 36 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1264 1264 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1656 male ATRX http://identifiers.org/ncbigene/546 Caucasian "" 1656 Frontal face 2023-07-21 12:02:04 UTC 25606380 http://rdf.ncbi.nlm.nih.gov/pubmed/25606380 36 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1264 1264 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1657 male ATRX http://identifiers.org/ncbigene/546 Caucasian "" 1657 Profile 2023-07-21 12:02:11 UTC 25606380 http://rdf.ncbi.nlm.nih.gov/pubmed/25606380 36 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/1264 1264 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_1657 male ATRX http://identifiers.org/ncbigene/546 Caucasian "" 1657 Profile 2023-07-21 12:02:11 UTC 25606380 http://rdf.ncbi.nlm.nih.gov/pubmed/25606380 36 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/12482 12482 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_21420 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 21420 Frontal face 2024-10-13 08:59:34 UTC 38686072 http://rdf.ncbi.nlm.nih.gov/pubmed/38686072 15 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/12482 12482 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_21420 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 21420 Frontal face 2024-10-13 08:59:34 UTC 38686072 http://rdf.ncbi.nlm.nih.gov/pubmed/38686072 15 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12530 12530 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21569 male GLDC http://identifiers.org/ncbigene/2731 European "" 21569 Frontal face 2024-10-30 07:28:45 UTC 36817643 http://rdf.ncbi.nlm.nih.gov/pubmed/36817643 8 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12530 12530 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21570 male GLDC http://identifiers.org/ncbigene/2731 European "" 21570 Profile 2024-10-19 10:46:06 UTC 36817643 http://rdf.ncbi.nlm.nih.gov/pubmed/36817643 8 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12530 12530 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21571 male GLDC http://identifiers.org/ncbigene/2731 European "" 21571 Limbs 2024-10-19 10:46:21 UTC 36817643 http://rdf.ncbi.nlm.nih.gov/pubmed/36817643 8 0 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12530 12530 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21572 male GLDC http://identifiers.org/ncbigene/2731 European "" 21572 Limbs 2024-10-19 10:46:36 UTC 36817643 http://rdf.ncbi.nlm.nih.gov/pubmed/36817643 8 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12703 12703 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22103 male RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22103 Frontal face 2024-11-05 14:36:12 UTC 35086131 http://rdf.ncbi.nlm.nih.gov/pubmed/35086131 4 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12703 12703 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22104 male RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22104 Frontal face 2024-11-05 14:36:23 UTC 35086131 http://rdf.ncbi.nlm.nih.gov/pubmed/35086131 4 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12704 12704 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22105 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22105 Profile 2024-11-05 14:45:03 UTC 35086131 http://rdf.ncbi.nlm.nih.gov/pubmed/35086131 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12704 12704 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22106 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22106 Profile 2024-11-05 14:45:16 UTC 35086131 http://rdf.ncbi.nlm.nih.gov/pubmed/35086131 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12704 12704 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22107 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22107 Frontal face 2024-11-05 14:45:35 UTC 35086131 http://rdf.ncbi.nlm.nih.gov/pubmed/35086131 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12704 12704 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22108 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22108 Limbs 2024-11-05 14:45:44 UTC 35086131 http://rdf.ncbi.nlm.nih.gov/pubmed/35086131 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12705 12705 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22109 male RECQL4 http://identifiers.org/ncbigene/9401 Asian - East "" 22109 Frontal face 2024-11-05 14:58:28 UTC 38131666 http://rdf.ncbi.nlm.nih.gov/pubmed/38131666 0 3 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12707 12707 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22112 male RECQL4 http://identifiers.org/ncbigene/9401 European - Southern "" 22112 Frontal face 2024-11-05 15:32:39 UTC 35781852 http://rdf.ncbi.nlm.nih.gov/pubmed/35781852 54 0 "" NANDO:2201528 MONDO:0016368 OMIM:618625 https://db.gestaltmatcher.org/patients/12708 12708 ROTHMUND-THOMSON SYNDROME, TYPE 1 https://db.gestaltmatcher.org/patients/image_22113 male ANAPC1 http://identifiers.org/ncbigene/64682 Caucasian, European - Northwestern "" 22113 Frontal face 2024-11-05 15:48:49 UTC 35664819 http://rdf.ncbi.nlm.nih.gov/pubmed/35664819 1 2 "" NANDO:2201528 MONDO:0016368 OMIM:618625 https://db.gestaltmatcher.org/patients/12708 12708 ROTHMUND-THOMSON SYNDROME, TYPE 1 https://db.gestaltmatcher.org/patients/image_22114 male ANAPC1 http://identifiers.org/ncbigene/64682 Caucasian, European - Northwestern "" 22114 Limbs 2024-11-05 15:48:56 UTC 35664819 http://rdf.ncbi.nlm.nih.gov/pubmed/35664819 1 2 "" NANDO:2201528 MONDO:0016368 OMIM:618625 https://db.gestaltmatcher.org/patients/12708 12708 ROTHMUND-THOMSON SYNDROME, TYPE 1 https://db.gestaltmatcher.org/patients/image_22115 male ANAPC1 http://identifiers.org/ncbigene/64682 Caucasian, European - Northwestern "" 22115 Others 2024-11-05 15:49:09 UTC 35664819 http://rdf.ncbi.nlm.nih.gov/pubmed/35664819 1 2 "" NANDO:2201528 MONDO:0016368 OMIM:618625 https://db.gestaltmatcher.org/patients/12708 12708 ROTHMUND-THOMSON SYNDROME, TYPE 1 https://db.gestaltmatcher.org/patients/image_22116 male ANAPC1 http://identifiers.org/ncbigene/64682 Caucasian, European - Northwestern "" 22116 Limbs 2024-11-05 15:49:22 UTC 35664819 http://rdf.ncbi.nlm.nih.gov/pubmed/35664819 1 2 "" NANDO:2201528 MONDO:0016368 OMIM:618625 https://db.gestaltmatcher.org/patients/12708 12708 ROTHMUND-THOMSON SYNDROME, TYPE 1 https://db.gestaltmatcher.org/patients/image_22117 male ANAPC1 http://identifiers.org/ncbigene/64682 Caucasian, European - Northwestern "" 22117 Limbs 2024-11-05 15:49:35 UTC 35664819 http://rdf.ncbi.nlm.nih.gov/pubmed/35664819 1 2 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12710 12710 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22120 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - East "" 22120 Profile 2024-11-05 16:34:33 UTC 32482547 http://rdf.ncbi.nlm.nih.gov/pubmed/32482547 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12710 12710 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22121 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - East "" 22121 Profile 2024-11-05 16:34:46 UTC 32482547 http://rdf.ncbi.nlm.nih.gov/pubmed/32482547 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12711 12711 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22122 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - East "" 22122 Frontal face 2024-11-05 16:49:57 UTC 28443301 http://rdf.ncbi.nlm.nih.gov/pubmed/28443301 11 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12711 12711 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22123 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - East "" 22123 Limbs 2024-11-05 16:50:04 UTC 28443301 http://rdf.ncbi.nlm.nih.gov/pubmed/28443301 11 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12711 12711 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22124 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - East "" 22124 Limbs 2024-11-05 16:50:16 UTC 28443301 http://rdf.ncbi.nlm.nih.gov/pubmed/28443301 11 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12712 12712 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22125 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22125 Frontal face 2024-11-05 17:06:30 UTC 27307676 http://rdf.ncbi.nlm.nih.gov/pubmed/27307676 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12712 12712 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22126 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22126 Limbs 2024-11-05 17:06:33 UTC 27307676 http://rdf.ncbi.nlm.nih.gov/pubmed/27307676 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12712 12712 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22127 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22127 Others 2024-11-05 17:06:46 UTC 27307676 http://rdf.ncbi.nlm.nih.gov/pubmed/27307676 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12712 12712 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22128 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22128 Limbs 2024-11-05 17:06:58 UTC 27307676 http://rdf.ncbi.nlm.nih.gov/pubmed/27307676 2 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12712 12712 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22129 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22129 Frontal face 2024-11-05 17:07:12 UTC 27307676 http://rdf.ncbi.nlm.nih.gov/pubmed/27307676 4 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12712 12712 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22130 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22130 Others 2024-11-05 17:07:19 UTC 27307676 http://rdf.ncbi.nlm.nih.gov/pubmed/27307676 4 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/12712 12712 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_22132 female RECQL4 http://identifiers.org/ncbigene/9401 American - Latin/Hispanic "" 22132 Others 2024-11-05 17:07:53 UTC 27307676 http://rdf.ncbi.nlm.nih.gov/pubmed/27307676 8 0 "" NANDO:1200654 MONDO:0010572 OMIM:304150 https://db.gestaltmatcher.org/patients/12564 12564 OCCIPITAL HORN SYNDROME https://db.gestaltmatcher.org/patients/image_21689 male ATP7A http://identifiers.org/ncbigene/538 "" "" 21689 Frontal face 2024-10-30 07:34:46 UTC 38141875 http://rdf.ncbi.nlm.nih.gov/pubmed/38141875 0 0 "" NANDO:2200581 MONDO:0010572 OMIM:304150 https://db.gestaltmatcher.org/patients/12564 12564 OCCIPITAL HORN SYNDROME https://db.gestaltmatcher.org/patients/image_21689 male ATP7A http://identifiers.org/ncbigene/538 "" "" 21689 Frontal face 2024-10-30 07:34:46 UTC 38141875 http://rdf.ncbi.nlm.nih.gov/pubmed/38141875 0 0 "" NANDO:1200654 MONDO:0010572 OMIM:304150 https://db.gestaltmatcher.org/patients/12565 12565 OCCIPITAL HORN SYNDROME https://db.gestaltmatcher.org/patients/image_21694 male ATP7A http://identifiers.org/ncbigene/538 "" "" 21694 Frontal face 2024-10-30 07:34:52 UTC 38141875 http://rdf.ncbi.nlm.nih.gov/pubmed/38141875 0 0 "" NANDO:2200581 MONDO:0010572 OMIM:304150 https://db.gestaltmatcher.org/patients/12565 12565 OCCIPITAL HORN SYNDROME https://db.gestaltmatcher.org/patients/image_21694 male ATP7A http://identifiers.org/ncbigene/538 "" "" 21694 Frontal face 2024-10-30 07:34:52 UTC 38141875 http://rdf.ncbi.nlm.nih.gov/pubmed/38141875 0 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12510 12510 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21515 female "" "" Unknown From Israel, but unknown which Ethnicity 21515 Frontal face 2024-10-14 15:13:32 UTC 8806131 http://rdf.ncbi.nlm.nih.gov/pubmed/8806131 4 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12510 12510 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21516 female "" "" Unknown From Israel, but unknown which Ethnicity 21516 Profile 2024-10-14 15:13:42 UTC 8806131 http://rdf.ncbi.nlm.nih.gov/pubmed/8806131 4 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12510 12510 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21517 female "" "" Unknown From Israel, but unknown which Ethnicity 21517 Frontal face 2024-10-14 15:14:00 UTC 8806131 http://rdf.ncbi.nlm.nih.gov/pubmed/8806131 4 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12511 12511 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21518 male "" "" Arab consanguin 1st cousin 21518 Frontal face 2024-10-14 15:52:57 UTC 8116678 http://rdf.ncbi.nlm.nih.gov/pubmed/8116678 0 3 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12573 12573 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21707 male "" "" Asian - East, Caucasian Japanese-American 21707 Frontal face 2024-10-30 07:35:02 UTC 5272043 http://rdf.ncbi.nlm.nih.gov/pubmed/5272043 11 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12573 12573 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21708 male "" "" Asian - East, Caucasian Japanese-American 21708 Profile 2024-10-22 13:11:47 UTC 5272043 http://rdf.ncbi.nlm.nih.gov/pubmed/5272043 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/125 125 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_156 female "" "" "" Egyptian 156 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/125 125 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_156 female "" "" "" Egyptian 156 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/126 126 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_157 male "" "" "" Lebanese 157 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 5 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/126 126 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_157 male "" "" "" Lebanese 157 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/127 127 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_158 female "" "" "" Lebanese 158 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/127 127 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_158 female "" "" "" Lebanese 158 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 6 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12470 12470 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21402 female "" "" Asian - South/Indian "" 21402 Frontal face 2024-10-12 11:01:18 UTC 27472202 http://rdf.ncbi.nlm.nih.gov/pubmed/27472202 0 0 child NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12528 12528 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21551 unknown "" "" African - North "" 21551 MRI 2024-10-19 09:07:51 UTC 38184950 http://rdf.ncbi.nlm.nih.gov/pubmed/38184950 0 0 T2w FASTE, sagittal, fetal MRI NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12528 12528 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21552 unknown "" "" African - North "" 21552 MRI 2024-10-19 09:08:26 UTC 38184950 http://rdf.ncbi.nlm.nih.gov/pubmed/38184950 0 0 T2w FASTE, sagittal, fetal MRI NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12528 12528 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21553 unknown "" "" African - North "" 21553 MRI 2024-10-19 09:08:47 UTC 38184950 http://rdf.ncbi.nlm.nih.gov/pubmed/38184950 0 0 T2w FASTE, axial, fetal MRI NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12528 12528 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21554 unknown "" "" African - North "" 21554 MRI 2024-10-19 09:09:08 UTC 38184950 http://rdf.ncbi.nlm.nih.gov/pubmed/38184950 0 0 T2w FASTE, axial, fetal MRI NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12528 12528 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21555 unknown "" "" African - North "" 21555 MRI 2024-10-19 09:09:30 UTC 38184950 http://rdf.ncbi.nlm.nih.gov/pubmed/38184950 0 0 T2w FASTE, sagittal, fetal MRI NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12528 12528 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21556 unknown "" "" African - North "" 21556 MRI 2024-10-19 09:10:16 UTC 38184950 http://rdf.ncbi.nlm.nih.gov/pubmed/38184950 0 0 T2w FASTE, axial, fetal MRI NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12528 12528 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21557 unknown "" "" African - North "" 21557 Others 2024-10-30 07:28:45 UTC 38184950 http://rdf.ncbi.nlm.nih.gov/pubmed/38184950 0 0 Fetal ultrasound, Second trimester NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12528 12528 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21558 unknown "" "" African - North "" 21558 Others 2024-10-19 09:11:36 UTC 38184950 http://rdf.ncbi.nlm.nih.gov/pubmed/38184950 0 0 Fetal ultrasound, Second trimester NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12528 12528 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21559 unknown "" "" African - North "" 21559 Others 2024-10-19 09:11:52 UTC 38184950 http://rdf.ncbi.nlm.nih.gov/pubmed/38184950 0 0 Fetal ultrasound, Second trimester NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12529 12529 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21560 male "" "" Asian "" 21560 MRI 2024-10-19 09:33:33 UTC 37941619 http://rdf.ncbi.nlm.nih.gov/pubmed/37941619 0 0 T2w, sagittal, 5 days old NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12529 12529 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21561 male "" "" Asian "" 21561 MRI 2024-10-19 09:35:59 UTC 37941619 http://rdf.ncbi.nlm.nih.gov/pubmed/37941619 0 0 T2w, axial, 5 days old NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12529 12529 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21562 male "" "" Asian "" 21562 Others 2024-10-19 09:34:30 UTC 37941619 http://rdf.ncbi.nlm.nih.gov/pubmed/37941619 0 0 CT reconstruction NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12529 12529 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21563 male "" "" Asian "" 21563 MRI 2024-10-19 09:35:00 UTC 37941619 http://rdf.ncbi.nlm.nih.gov/pubmed/37941619 0 0 T2w, sagittal, 50 days old NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12529 12529 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21564 male "" "" Asian "" 21564 MRI 2024-10-19 09:35:20 UTC 37941619 http://rdf.ncbi.nlm.nih.gov/pubmed/37941619 0 0 T2w, axial, 50 days old NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12529 12529 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21565 male "" "" Asian "" 21565 Others 2024-10-19 09:35:45 UTC 37941619 http://rdf.ncbi.nlm.nih.gov/pubmed/37941619 0 0 Three-dimensional computed tomography venography NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12529 12529 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21566 male "" "" Asian "" 21566 MRI 2024-10-19 09:36:33 UTC 37941619 http://rdf.ncbi.nlm.nih.gov/pubmed/37941619 0 0 T2w, sagittal, post-op NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12529 12529 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21567 male "" "" Asian "" 21567 MRI 2024-10-19 09:36:55 UTC 37941619 http://rdf.ncbi.nlm.nih.gov/pubmed/37941619 0 0 T2w, axial, post-op NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12534 12534 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21580 female "" "" Caucasian "" 21580 Frontal face 2024-10-30 07:29:24 UTC 1776644 http://rdf.ncbi.nlm.nih.gov/pubmed/1776644 24 0 Wearing a wig NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21621 unknown "" "" European "" 21621 MRI 2024-10-22 07:48:14 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "T2w, sagittal, ""immediately post birth""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21622 unknown "" "" European "" 21622 MRI 2024-10-22 07:48:40 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "T1w, axial, ""immediately post birth""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21625 unknown "" "" European "" 21625 MRI 2024-10-22 07:49:40 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "T2w, coronal, ""immediately post birth""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21626 unknown "" "" European "" 21626 MRI 2024-10-22 07:50:47 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "BFFE, sagittal, ""during abcess formation""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21627 unknown "" "" European "" 21627 MRI 2024-10-22 07:51:12 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "T1w, sagittal, ""during abcess formation""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21628 unknown "" "" European "" 21628 MRI 2024-10-22 07:51:34 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "T1w, axial, ""during abcess formation""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21629 unknown "" "" European "" 21629 MRI 2024-10-22 07:52:18 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "T2w, sagittal, ""Post-operative""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21630 unknown "" "" European "" 21630 MRI 2024-10-22 07:52:53 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "T1w contast enhanced, sagittal, ""Post-operative""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21631 unknown "" "" European "" 21631 MRI 2024-10-22 07:53:14 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "T1w contast enhanced, axial, ""Post-operative""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12549 12549 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21632 unknown "" "" European "" 21632 MRI 2024-10-22 07:53:36 UTC 36574013 http://rdf.ncbi.nlm.nih.gov/pubmed/36574013 0 0 "T1w, sagittal, ""Post-operative""" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12551 12551 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21637 female "" "" Asian - East "" 21637 MRI 2024-10-22 08:01:36 UTC 36572904 http://rdf.ncbi.nlm.nih.gov/pubmed/36572904 0 0 T2w, sagittal, prenatal MRI (34 week) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12551 12551 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21638 female "" "" Asian - East "" 21638 MRI 2024-10-22 08:02:08 UTC 36572904 http://rdf.ncbi.nlm.nih.gov/pubmed/36572904 0 0 T2w, axial, prenatal (34 weeks) NANDO:1200485 MONDO:0009567 OMIM:248800 https://db.gestaltmatcher.org/patients/12729 12729 MARINESCO-SJOGREN SYNDROME https://db.gestaltmatcher.org/patients/image_22169 female "" "" Unknown "" 22169 MRI 2024-11-08 21:00:39 UTC 22115007 http://rdf.ncbi.nlm.nih.gov/pubmed/22115007 4 0 Cranial magnetic resonance imaging, T1-weighted, sagittal image NANDO:1200485 MONDO:0009567 OMIM:248800 https://db.gestaltmatcher.org/patients/12729 12729 MARINESCO-SJOGREN SYNDROME https://db.gestaltmatcher.org/patients/image_22170 female "" "" Unknown "" 22170 MRI 2024-11-08 21:00:46 UTC 22115007 http://rdf.ncbi.nlm.nih.gov/pubmed/22115007 4 0 Cranial magnetic resonance imaging, T2-weighted, axial images NANDO:1200485 MONDO:0009567 OMIM:248800 https://db.gestaltmatcher.org/patients/12729 12729 MARINESCO-SJOGREN SYNDROME https://db.gestaltmatcher.org/patients/image_22171 female "" "" Unknown "" 22171 MRI 2024-11-08 21:00:26 UTC 22115007 http://rdf.ncbi.nlm.nih.gov/pubmed/22115007 4 0 Cranial magnetic resonance imaging, T2-weighted, axial images NANDO:1200485 MONDO:0009567 OMIM:248800 https://db.gestaltmatcher.org/patients/12733 12733 MARINESCO-SJOGREN SYNDROME https://db.gestaltmatcher.org/patients/image_22201 male "" "" Unknown "" 22201 MRI 2024-11-10 16:49:36 UTC 22115007 http://rdf.ncbi.nlm.nih.gov/pubmed/22115007 3 0 Cranial magnetic resonance imaging, T2-weighted, coronal image NANDO:1200485 MONDO:0009567 OMIM:248800 https://db.gestaltmatcher.org/patients/12733 12733 MARINESCO-SJOGREN SYNDROME https://db.gestaltmatcher.org/patients/image_22202 male "" "" Unknown "" 22202 MRI 2024-11-25 20:16:50 UTC 22115007 http://rdf.ncbi.nlm.nih.gov/pubmed/22115007 3 0 Cranial magnetic resonance Imaging, fluid attenuated inversion recovery, axial image NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12471 12471 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21403 male "" "" Asian - South/Indian "" 21403 Frontal face 2024-10-12 11:03:14 UTC 27472202 http://rdf.ncbi.nlm.nih.gov/pubmed/27472202 0 1 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12472 12472 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21404 female "" "" Asian - South/Indian "" 21404 Frontal face 2024-10-12 11:06:21 UTC 27472202 http://rdf.ncbi.nlm.nih.gov/pubmed/27472202 5 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12473 12473 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21405 male "" "" Asian - South/Indian "" 21405 Frontal face 2024-10-12 11:11:02 UTC 27472202 http://rdf.ncbi.nlm.nih.gov/pubmed/27472202 3 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12474 12474 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21406 female "" "" Asian - West/Middle Eastern "" 21406 Frontal face 2024-10-12 11:37:04 UTC 25966733 http://rdf.ncbi.nlm.nih.gov/pubmed/25966733 3 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12474 12474 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21407 female "" "" Asian - West/Middle Eastern "" 21407 Profile 2024-10-12 11:37:13 UTC 25966733 http://rdf.ncbi.nlm.nih.gov/pubmed/25966733 3 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12474 12474 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21408 female "" "" Asian - West/Middle Eastern "" 21408 Limbs 2024-10-12 11:37:24 UTC 25966733 http://rdf.ncbi.nlm.nih.gov/pubmed/25966733 3 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12474 12474 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21409 female "" "" Asian - West/Middle Eastern "" 21409 Limbs 2024-10-12 11:37:44 UTC 25966733 http://rdf.ncbi.nlm.nih.gov/pubmed/25966733 3 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12475 12475 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21410 male "" "" Asian - South/Indian "" 21410 Frontal face 2024-10-12 12:40:14 UTC 24168356 http://rdf.ncbi.nlm.nih.gov/pubmed/24168356 10 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12476 12476 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21411 female "" "" Asian - South/Indian "" 21411 Frontal face 2024-10-12 12:59:10 UTC 23728903 http://rdf.ncbi.nlm.nih.gov/pubmed/23728903 22 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12476 12476 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21412 female "" "" Asian - South/Indian "" 21412 Frontal face 2024-10-12 12:59:24 UTC 23728903 http://rdf.ncbi.nlm.nih.gov/pubmed/23728903 22 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12477 12477 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21413 female "" "" Asian - East "" 21413 Frontal face 2024-10-12 13:13:04 UTC 21815247 http://rdf.ncbi.nlm.nih.gov/pubmed/21815247 41 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12478 12478 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21414 female "" "" Asian - East "" 21414 Frontal face 2024-10-12 13:19:20 UTC 21815247 http://rdf.ncbi.nlm.nih.gov/pubmed/21815247 38 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12479 12479 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21415 male "" "" Asian - East "" 21415 Frontal face 2024-10-12 13:52:35 UTC 21461230 http://rdf.ncbi.nlm.nih.gov/pubmed/21461230 54 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12480 12480 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21416 male "" "" European - Northwestern "" 21416 Frontal face 2024-10-12 14:11:40 UTC 19057381 http://rdf.ncbi.nlm.nih.gov/pubmed/19057381 2 7 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12481 12481 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21417 female "" "" European - Northwestern "" 21417 Frontal face 2024-10-12 14:21:45 UTC 19057381 http://rdf.ncbi.nlm.nih.gov/pubmed/19057381 2 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12481 12481 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21418 female "" "" European - Northwestern "" 21418 Frontal face 2024-10-12 14:21:58 UTC 19057381 http://rdf.ncbi.nlm.nih.gov/pubmed/19057381 11 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12481 12481 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21419 female "" "" European - Northwestern "" 21419 Frontal face 2024-10-12 14:22:02 UTC 19057381 http://rdf.ncbi.nlm.nih.gov/pubmed/19057381 11 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12504 12504 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21505 female "" "" European "" 21505 Frontal face 2024-10-14 13:15:25 UTC 18268225 http://rdf.ncbi.nlm.nih.gov/pubmed/18268225 0 1 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12505 12505 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21506 male "" "" Asian - East "" 21506 Frontal face 2024-10-14 13:34:53 UTC 18193263 http://rdf.ncbi.nlm.nih.gov/pubmed/18193263 0 2 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12506 12506 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21507 female "" "" Asian - South/Indian "" 21507 Frontal face 2024-10-14 13:44:13 UTC 15767716 http://rdf.ncbi.nlm.nih.gov/pubmed/15767716 0 2 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12507 12507 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21508 male "" "" Asian - West/Middle Eastern "" 21508 Frontal face 2024-10-14 13:58:50 UTC 15581837 http://rdf.ncbi.nlm.nih.gov/pubmed/15581837 0 1 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12507 12507 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21509 male "" "" Asian - West/Middle Eastern "" 21509 Profile 2024-10-14 13:58:59 UTC 15581837 http://rdf.ncbi.nlm.nih.gov/pubmed/15581837 0 1 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12508 12508 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21510 male "" "" European - Southern "" 21510 Frontal face 2024-10-14 14:27:01 UTC 14981729 http://rdf.ncbi.nlm.nih.gov/pubmed/14981729 10 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12508 12508 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21511 male "" "" European - Southern "" 21511 Frontal face 2024-10-14 14:27:24 UTC 14981729 http://rdf.ncbi.nlm.nih.gov/pubmed/14981729 10 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12508 12508 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21512 male "" "" European - Southern "" 21512 Profile 2024-10-14 14:27:27 UTC 14981729 http://rdf.ncbi.nlm.nih.gov/pubmed/14981729 10 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12508 12508 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21513 male "" "" European - Southern "" 21513 Limbs 2024-10-14 14:27:40 UTC 14981729 http://rdf.ncbi.nlm.nih.gov/pubmed/14981729 10 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12509 12509 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21514 female "" "" Asian - East "" 21514 Profile 2024-10-14 14:46:33 UTC 10573253 http://rdf.ncbi.nlm.nih.gov/pubmed/10573253 26 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12512 12512 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21519 female "" "" Asian - South/Indian "" 21519 Profile 2024-10-14 16:06:55 UTC 8262609 http://rdf.ncbi.nlm.nih.gov/pubmed/8262609 50 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12532 12532 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21574 male "" "" Caucasian "" 21574 Frontal face 2024-10-30 07:28:49 UTC 1776646 http://rdf.ncbi.nlm.nih.gov/pubmed/1776646 13 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12532 12532 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21575 male "" "" Caucasian "" 21575 Profile 2024-10-20 14:57:04 UTC 1776646 http://rdf.ncbi.nlm.nih.gov/pubmed/1776646 13 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12532 12532 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21576 male "" "" Caucasian "" 21576 Hand X-ray 2024-10-20 14:57:17 UTC 1776646 http://rdf.ncbi.nlm.nih.gov/pubmed/1776646 13 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12533 12533 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21577 male "" "" American - African/Black "" 21577 Frontal face 2024-10-30 07:29:05 UTC 1776645 http://rdf.ncbi.nlm.nih.gov/pubmed/1776645 1 6 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12533 12533 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21578 male "" "" American - African/Black "" 21578 Profile 2024-10-20 15:57:50 UTC 1776645 http://rdf.ncbi.nlm.nih.gov/pubmed/1776645 1 6 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12533 12533 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21579 male "" "" American - African/Black "" 21579 MRI 2024-10-20 15:58:09 UTC 1776645 http://rdf.ncbi.nlm.nih.gov/pubmed/1776645 1 6 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12534 12534 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21581 female "" "" Caucasian "" 21581 Profile 2024-10-20 16:15:32 UTC 1776644 http://rdf.ncbi.nlm.nih.gov/pubmed/1776644 24 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12535 12535 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21582 male "" "" European "" 21582 Frontal face 2024-10-30 07:29:43 UTC 1663704 http://rdf.ncbi.nlm.nih.gov/pubmed/1663704 4 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12536 12536 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21583 female "" "" European - Northwestern "" 21583 Frontal face 2024-10-30 07:30:01 UTC 1663704 http://rdf.ncbi.nlm.nih.gov/pubmed/1663704 0 8 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12536 12536 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21584 female "" "" European - Northwestern "" 21584 Limbs 2024-10-20 16:47:51 UTC 1663704 http://rdf.ncbi.nlm.nih.gov/pubmed/1663704 0 8 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12536 12536 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21585 female "" "" European - Northwestern "" 21585 Limbs 2024-10-20 16:48:14 UTC 1663704 http://rdf.ncbi.nlm.nih.gov/pubmed/1663704 0 8 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12537 12537 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21586 female "" "" Unknown "" 21586 Frontal face 2024-10-30 07:30:16 UTC 2406080 http://rdf.ncbi.nlm.nih.gov/pubmed/2406080 8 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12537 12537 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21587 female "" "" Unknown "" 21587 Profile 2024-10-20 17:00:20 UTC 2406080 http://rdf.ncbi.nlm.nih.gov/pubmed/2406080 8 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12561 12561 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21683 female "" "" Caucasian "" 21683 Frontal face 2024-10-30 07:34:41 UTC 3125273 http://rdf.ncbi.nlm.nih.gov/pubmed/3125273 19 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12561 12561 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21684 female "" "" Caucasian "" 21684 Profile 2024-10-22 11:33:01 UTC 3125273 http://rdf.ncbi.nlm.nih.gov/pubmed/3125273 19 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12563 12563 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21685 male "" "" European - Southern "" 21685 Frontal face 2024-10-30 07:34:42 UTC 88512 http://rdf.ncbi.nlm.nih.gov/pubmed/88512 23 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12563 12563 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21686 male "" "" European - Southern "" 21686 Frontal face 2024-10-30 07:34:47 UTC 88512 http://rdf.ncbi.nlm.nih.gov/pubmed/88512 23 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12563 12563 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21687 male "" "" European - Southern "" 21687 Profile 2024-10-22 11:55:09 UTC 88512 http://rdf.ncbi.nlm.nih.gov/pubmed/88512 23 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12563 12563 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21688 male "" "" European - Southern "" 21688 Profile 2024-10-22 11:55:23 UTC 88512 http://rdf.ncbi.nlm.nih.gov/pubmed/88512 23 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12566 12566 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21695 female "" "" Caucasian "" 21695 Frontal face 2024-10-30 07:34:54 UTC 572167 http://rdf.ncbi.nlm.nih.gov/pubmed/572167 23 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12566 12566 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21696 female "" "" Caucasian "" 21696 Profile 2024-10-22 12:06:16 UTC 572167 http://rdf.ncbi.nlm.nih.gov/pubmed/572167 23 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12570 12570 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21702 male "" "" European - Northwestern "" 21702 Frontal face 2024-10-30 07:35:00 UTC 69692 http://rdf.ncbi.nlm.nih.gov/pubmed/69692 25 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12570 12570 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21703 male "" "" European - Northwestern "" 21703 Profile 2024-10-22 12:39:02 UTC 69692 http://rdf.ncbi.nlm.nih.gov/pubmed/69692 25 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12572 12572 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21704 male "" "" European - Northwestern "" 21704 Frontal face 2024-10-30 07:35:01 UTC 57229 http://rdf.ncbi.nlm.nih.gov/pubmed/57229 43 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12575 12575 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21711 female "" "" European - Southern "" 21711 Frontal face 2024-10-30 07:35:06 UTC 14487806 http://rdf.ncbi.nlm.nih.gov/pubmed/14487806 33 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12575 12575 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21712 female "" "" European - Southern "" 21712 Profile 2024-10-22 14:01:39 UTC 14487806 http://rdf.ncbi.nlm.nih.gov/pubmed/14487806 33 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/12575 12575 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_21713 female "" "" European - Southern "" 21713 Profile 2024-10-22 14:01:52 UTC 14487806 http://rdf.ncbi.nlm.nih.gov/pubmed/14487806 33 0 "" NANDO:1200485 MONDO:0009567 OMIM:248800 https://db.gestaltmatcher.org/patients/12725 12725 MARINESCO-SJOGREN SYNDROME https://db.gestaltmatcher.org/patients/image_22159 male "" "" Unknown "" 22159 Frontal face 2024-11-08 11:54:25 UTC 15633176 http://rdf.ncbi.nlm.nih.gov/pubmed/15633176 1 6 "" NANDO:1200485 MONDO:0009567 OMIM:248800 https://db.gestaltmatcher.org/patients/12725 12725 MARINESCO-SJOGREN SYNDROME https://db.gestaltmatcher.org/patients/image_22160 male "" "" Unknown "" 22160 Frontal face 2024-11-08 11:54:45 UTC 15633176 http://rdf.ncbi.nlm.nih.gov/pubmed/15633176 0 3 "" NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12494 12494 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21457 male "" "" "" "" 21457 MRI 2024-10-14 10:49:04 UTC "" "" 1 6 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12494 12494 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21458 male "" "" "" "" 21458 MRI 2024-10-14 10:51:54 UTC "" "" 1 6 FLAIR, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12494 12494 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21459 male "" "" "" "" 21459 MRI 2024-10-14 10:50:56 UTC "" "" 1 6 T2w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12494 12494 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21460 male "" "" "" "" 21460 Frontal face 2024-10-14 10:51:43 UTC "" "" 1 6 T1w, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12495 12495 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21461 male "" "" "" "" 21461 MRI 2024-10-14 10:58:07 UTC "" "" 2 0 T2w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12495 12495 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21462 male "" "" "" "" 21462 MRI 2024-10-14 10:58:58 UTC "" "" 2 0 T2w axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12495 12495 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21463 male "" "" "" "" 21463 MRI 2024-10-14 10:59:22 UTC "" "" 2 0 T1w, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12496 12496 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21464 female "" "" "" "" 21464 MRI 2024-10-14 11:16:31 UTC "" "" 0 8 CISS, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12496 12496 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21465 female "" "" "" "" 21465 MRI 2024-10-14 11:17:06 UTC "" "" 0 8 T1w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12496 12496 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21466 female "" "" "" "" 21466 MRI 2024-10-14 11:17:39 UTC "" "" 0 8 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12496 12496 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21467 female "" "" "" "" 21467 MRI 2024-10-14 11:18:10 UTC "" "" 0 8 FLAIR, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12496 12496 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21468 female "" "" "" "" 21468 MRI 2024-10-14 11:18:43 UTC "" "" 0 8 T1w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12496 12496 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21469 female "" "" "" "" 21469 MRI 2024-10-14 11:19:26 UTC "" "" 0 8 T1w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12496 12496 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21470 female "" "" "" "" 21470 MRI 2024-10-14 11:19:56 UTC "" "" 0 8 T2w, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12497 12497 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21471 male "" "" "" "" 21471 MRI 2024-10-14 11:24:29 UTC "" "" 1 8 T2w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12497 12497 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21472 male "" "" "" "" 21472 MRI 2024-10-14 11:25:01 UTC "" "" 1 8 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12497 12497 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21473 male "" "" "" "" 21473 MRI 2024-10-14 11:25:35 UTC "" "" 1 8 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12497 12497 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21474 male "" "" "" "" 21474 MRI 2024-10-14 11:26:04 UTC "" "" 1 8 T2w, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12497 12497 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21475 male "" "" "" "" 21475 MRI 2024-10-14 11:26:36 UTC "" "" 1 8 T2w, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12498 12498 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21476 male "" "" "" "" 21476 MRI 2024-10-14 11:49:09 UTC "" "" 0 3 T2w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12498 12498 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21477 male "" "" "" "" 21477 MRI 2024-10-14 11:49:54 UTC "" "" 0 3 T1 C+, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12498 12498 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21478 male "" "" "" "" 21478 MRI 2024-10-14 11:50:40 UTC "" "" 0 3 T2w, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12498 12498 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21479 male "" "" "" "" 21479 MRI 2024-10-14 11:51:15 UTC "" "" 0 3 FLAIR, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12498 12498 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21480 male "" "" "" "" 21480 MRI 2024-10-14 11:52:07 UTC "" "" 0 3 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12498 12498 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21481 male "" "" "" "" 21481 MRI 2024-10-14 11:52:31 UTC "" "" 0 3 T1w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12499 12499 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21482 female "" "" "" "" 21482 MRI 2024-10-14 12:01:26 UTC "" "" 0 0 T1w, sagittal (4 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12499 12499 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21483 female "" "" "" "" 21483 MRI 2024-10-14 12:01:56 UTC "" "" 0 0 T1w, axial (4 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12499 12499 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21484 female "" "" "" "" 21484 MRI 2024-10-14 12:02:23 UTC "" "" 0 0 FLAIR, axial (4 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12499 12499 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21485 female "" "" "" "" 21485 MRI 2024-10-14 12:02:52 UTC "" "" 0 0 FLAIR, coronal (4 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12499 12499 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21486 female "" "" "" "" 21486 MRI 2024-10-14 12:03:22 UTC "" "" 0 0 T2w, axial (4 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12500 12500 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21487 female "" "" "" "" 21487 MRI 2024-10-14 12:09:21 UTC "" "" 0 0 T2w, coronal (22 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12500 12500 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21488 female "" "" "" "" 21488 MRI 2024-10-14 12:10:01 UTC "" "" 0 0 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12500 12500 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21489 female "" "" "" "" 21489 MRI 2024-10-14 12:10:27 UTC "" "" 0 0 T1w, sagittal (22days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12500 12500 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21490 female "" "" "" "" 21490 MRI 2024-10-14 12:11:13 UTC "" "" 0 0 T1w, axial (22 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12500 12500 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21491 female "" "" "" "" 21491 MRI 2024-10-14 12:11:46 UTC "" "" 0 0 FLAIR, coronal (22 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12501 12501 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21492 female "" "" "" "" 21492 MRI 2024-10-14 12:17:17 UTC "" "" 30 0 T2w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12501 12501 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21493 female "" "" "" "" 21493 MRI 2024-10-14 12:18:24 UTC "" "" 30 0 T2w, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12501 12501 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21494 female "" "" "" "" 21494 MRI 2024-10-14 12:19:02 UTC "" "" 30 0 T1w, axial NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12501 12501 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21495 female "" "" "" "" 21495 MRI 2024-10-14 12:19:33 UTC "" "" 30 0 FLAIR, coronal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12501 12501 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21496 female "" "" "" "" 21496 MRI 2024-10-14 12:19:59 UTC "" "" 30 0 FLAIR, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12501 12501 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21497 female "" "" "" "" 21497 MRI 2024-10-14 12:20:29 UTC "" "" 30 0 T1w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12502 12502 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21498 female "" "" "" "" 21498 MRI 2024-10-14 12:27:04 UTC "" "" 0 0 IR, coronal (10 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12502 12502 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21499 female "" "" "" "" 21499 MRI 2024-10-14 12:27:30 UTC "" "" 0 0 T2w, sagittal (10 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12502 12502 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21500 female "" "" "" "" 21500 MRI 2024-10-14 12:27:56 UTC "" "" 0 0 T2w coronal (10 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12502 12502 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21501 female "" "" "" "" 21501 MRI 2024-10-14 12:28:23 UTC "" "" 0 0 FLAIR, axial (10 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12502 12502 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21502 female "" "" "" "" 21502 MRI 2024-10-14 12:28:45 UTC "" "" 0 0 T2w, axial (10 days) NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12503 12503 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21503 male "" "" "" "" 21503 Frontal face 2024-10-14 12:33:16 UTC "" "" 0 0 T1w, sagittal NANDO:2200821 MONDO:0009072 OMIM:220200 https://db.gestaltmatcher.org/patients/12503 12503 DANDY-WALKER SYNDROME; DWS https://db.gestaltmatcher.org/patients/image_21504 male "" "" "" "" 21504 MRI 2024-10-14 12:33:34 UTC "" "" 0 0 T2w axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22708 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22708 MRI 2024-11-30 20:32:37 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 T2 3D, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22708 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22708 MRI 2024-11-30 20:32:37 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 T2 3D, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22709 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22709 MRI 2024-11-30 20:33:07 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 T2w, coronal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22709 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22709 MRI 2024-11-30 20:33:07 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 T2w, coronal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22710 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22710 MRI 2024-11-30 20:33:34 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22710 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22710 MRI 2024-11-30 20:33:34 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22705 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22705 Frontal face 2024-11-30 20:31:06 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22705 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22705 Frontal face 2024-11-30 20:31:06 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22706 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22706 Profile 2024-11-30 20:31:23 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22706 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22706 Profile 2024-11-30 20:31:23 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22707 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22707 Limbs 2024-11-30 20:31:51 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12950 12950 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22707 male ZEB2 http://identifiers.org/ncbigene/9839 Asian - West/Middle Eastern Turkey 22707 Limbs 2024-11-30 20:31:51 UTC 33997095 http://rdf.ncbi.nlm.nih.gov/pubmed/33997095 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12857 12857 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22504 female ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22504 Frontal face 2024-11-17 21:38:55 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12857 12857 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22504 female ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22504 Frontal face 2024-11-17 21:38:55 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12857 12857 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22505 female ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22505 Profile 2024-11-17 21:39:02 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12857 12857 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22505 female ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22505 Profile 2024-11-17 21:39:02 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12857 12857 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22506 female ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22506 Limbs 2024-11-17 21:39:53 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown, hallux valgus NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12857 12857 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22506 female ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22506 Limbs 2024-11-17 21:39:53 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown, hallux valgus NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12859 12859 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22508 male ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22508 Frontal face 2024-11-17 22:06:10 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 early childhood NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12859 12859 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22508 male ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22508 Frontal face 2024-11-17 22:06:10 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 early childhood NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12859 12859 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22509 male ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22509 Frontal face 2024-11-17 22:07:11 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12859 12859 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22509 male ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22509 Frontal face 2024-11-17 22:07:11 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12859 12859 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22510 male ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22510 Profile 2024-11-17 22:07:21 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12859 12859 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22510 male ZEB2 http://identifiers.org/ncbigene/9839 "" Türkiye 22510 Profile 2024-11-17 22:07:21 UTC 39526569 http://rdf.ncbi.nlm.nih.gov/pubmed/39526569 0 0 Unknown NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12946 12946 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22687 male ZEB2 http://identifiers.org/ncbigene/9839 African "" 22687 Frontal face 2024-11-30 13:06:34 UTC 23523603 http://rdf.ncbi.nlm.nih.gov/pubmed/23523603 0 0 postnatal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12946 12946 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22687 male ZEB2 http://identifiers.org/ncbigene/9839 African "" 22687 Frontal face 2024-11-30 13:06:34 UTC 23523603 http://rdf.ncbi.nlm.nih.gov/pubmed/23523603 0 0 postnatal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12946 12946 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22688 male ZEB2 http://identifiers.org/ncbigene/9839 African "" 22688 Profile 2024-11-30 13:06:21 UTC 23523603 http://rdf.ncbi.nlm.nih.gov/pubmed/23523603 0 0 postnatal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12946 12946 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22688 male ZEB2 http://identifiers.org/ncbigene/9839 African "" 22688 Profile 2024-11-30 13:06:21 UTC 23523603 http://rdf.ncbi.nlm.nih.gov/pubmed/23523603 0 0 postnatal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12946 12946 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22689 male ZEB2 http://identifiers.org/ncbigene/9839 African "" 22689 MRI 2024-11-30 13:07:30 UTC 23523603 http://rdf.ncbi.nlm.nih.gov/pubmed/23523603 0 0 fetal, 34 weeks, T2w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12946 12946 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22689 male ZEB2 http://identifiers.org/ncbigene/9839 African "" 22689 MRI 2024-11-30 13:07:30 UTC 23523603 http://rdf.ncbi.nlm.nih.gov/pubmed/23523603 0 0 fetal, 34 weeks, T2w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12946 12946 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22690 male ZEB2 http://identifiers.org/ncbigene/9839 African "" 22690 Others 2024-11-30 13:08:00 UTC 23523603 http://rdf.ncbi.nlm.nih.gov/pubmed/23523603 0 0 histological findings NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12946 12946 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22690 male ZEB2 http://identifiers.org/ncbigene/9839 African "" 22690 Others 2024-11-30 13:08:00 UTC 23523603 http://rdf.ncbi.nlm.nih.gov/pubmed/23523603 0 0 histological findings NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22691 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22691 MRI 2024-11-30 19:41:23 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 FLAIR, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22691 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22691 MRI 2024-11-30 19:41:23 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 FLAIR, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22693 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22693 MRI 2024-11-30 19:40:50 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 ACD, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22693 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22693 MRI 2024-11-30 19:40:50 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 ACD, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22694 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22694 MRI 2024-11-30 19:41:10 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 DWI, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22694 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22694 MRI 2024-11-30 19:41:10 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 DWI, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22695 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22695 MRI 2024-11-30 19:41:38 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 FLAIR, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22695 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22695 MRI 2024-11-30 19:41:38 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 FLAIR, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22696 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22696 MRI 2024-11-30 19:41:53 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 ADC, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22696 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22696 MRI 2024-11-30 19:41:53 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 ADC, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22697 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22697 MRI 2024-11-30 19:42:13 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 DWI, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22697 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22697 MRI 2024-11-30 19:42:13 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 DWI, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22698 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22698 MRI 2024-11-30 19:42:28 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 FLAIR, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22698 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22698 MRI 2024-11-30 19:42:28 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 FLAIR, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22699 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22699 MRI 2024-11-30 19:42:50 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 ADC, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22699 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22699 MRI 2024-11-30 19:42:50 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 ADC, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22700 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22700 MRI 2024-11-30 19:43:13 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 ADC, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12947 12947 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22700 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22700 MRI 2024-11-30 19:43:13 UTC 33344924 http://rdf.ncbi.nlm.nih.gov/pubmed/33344924 45 0 ADC, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12951 12951 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22712 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22712 MRI 2024-11-30 20:44:01 UTC 34466018 http://rdf.ncbi.nlm.nih.gov/pubmed/34466018 1 10 T2w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12951 12951 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22712 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22712 MRI 2024-11-30 20:44:01 UTC 34466018 http://rdf.ncbi.nlm.nih.gov/pubmed/34466018 1 10 T2w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12960 12960 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22729 male ZEB2 http://identifiers.org/ncbigene/9839 African - North "" 22729 MRI 2024-12-02 07:39:31 UTC 34012377 http://rdf.ncbi.nlm.nih.gov/pubmed/34012377 1 0 T2w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12960 12960 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22729 male ZEB2 http://identifiers.org/ncbigene/9839 African - North "" 22729 MRI 2024-12-02 07:39:31 UTC 34012377 http://rdf.ncbi.nlm.nih.gov/pubmed/34012377 1 0 T2w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12960 12960 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22730 male ZEB2 http://identifiers.org/ncbigene/9839 African - North "" 22730 MRI 2024-12-02 07:39:55 UTC 34012377 http://rdf.ncbi.nlm.nih.gov/pubmed/34012377 1 0 T2w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12960 12960 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22730 male ZEB2 http://identifiers.org/ncbigene/9839 African - North "" 22730 MRI 2024-12-02 07:39:55 UTC 34012377 http://rdf.ncbi.nlm.nih.gov/pubmed/34012377 1 0 T2w, sagittal NANDO:1200576 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12966 12966 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22741 male PLP1 http://identifiers.org/ncbigene/5354 Asian - South/Indian "" 22741 MRI 2024-12-03 07:57:03 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 9 T2w, axial NANDO:2201288 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12966 12966 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22741 male PLP1 http://identifiers.org/ncbigene/5354 Asian - South/Indian "" 22741 MRI 2024-12-03 07:57:03 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 9 T2w, axial NANDO:1200576 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12966 12966 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22742 male PLP1 http://identifiers.org/ncbigene/5354 Asian - South/Indian "" 22742 MRI 2024-12-03 07:57:22 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 9 T1w, axial NANDO:2201288 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12966 12966 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22742 male PLP1 http://identifiers.org/ncbigene/5354 Asian - South/Indian "" 22742 MRI 2024-12-03 07:57:22 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 9 T1w, axial NANDO:1200576 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12968 12968 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22745 male PLP1 http://identifiers.org/ncbigene/5354 Asian - South/Indian "" 22745 MRI 2024-12-03 08:46:26 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 5 0 T2w, axial NANDO:2201288 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12968 12968 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22745 male PLP1 http://identifiers.org/ncbigene/5354 Asian - South/Indian "" 22745 MRI 2024-12-03 08:46:26 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 5 0 T2w, axial NANDO:1200576 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12968 12968 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22746 male PLP1 http://identifiers.org/ncbigene/5354 Asian - South/Indian "" 22746 MRI 2024-12-03 08:46:49 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 5 0 T1w, axial NANDO:2201288 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12968 12968 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22746 male PLP1 http://identifiers.org/ncbigene/5354 Asian - South/Indian "" 22746 MRI 2024-12-03 08:46:49 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 5 0 T1w, axial NANDO:1200578 MONDO:0012905 OMIM:612438 https://db.gestaltmatcher.org/patients/12974 12974 LEUKODYSTROPHY, HYPOMYELINATING, 6 https://db.gestaltmatcher.org/patients/image_22768 male TUBB4A http://identifiers.org/ncbigene/10382 Asian - South/Indian "" 22768 MRI 2024-12-04 08:28:56 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 14 0 T2w, axial NANDO:2201290 MONDO:0012905 OMIM:612438 https://db.gestaltmatcher.org/patients/12974 12974 LEUKODYSTROPHY, HYPOMYELINATING, 6 https://db.gestaltmatcher.org/patients/image_22768 male TUBB4A http://identifiers.org/ncbigene/10382 Asian - South/Indian "" 22768 MRI 2024-12-04 08:28:56 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 14 0 T2w, axial NANDO:1200578 MONDO:0012905 OMIM:612438 https://db.gestaltmatcher.org/patients/12974 12974 LEUKODYSTROPHY, HYPOMYELINATING, 6 https://db.gestaltmatcher.org/patients/image_22769 male TUBB4A http://identifiers.org/ncbigene/10382 Asian - South/Indian "" 22769 MRI 2024-12-04 08:29:21 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 14 0 T1w, sagittal NANDO:2201290 MONDO:0012905 OMIM:612438 https://db.gestaltmatcher.org/patients/12974 12974 LEUKODYSTROPHY, HYPOMYELINATING, 6 https://db.gestaltmatcher.org/patients/image_22769 male TUBB4A http://identifiers.org/ncbigene/10382 Asian - South/Indian "" 22769 MRI 2024-12-04 08:29:21 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 14 0 T1w, sagittal NANDO:1200578 MONDO:0012905 OMIM:612438 https://db.gestaltmatcher.org/patients/12975 12975 LEUKODYSTROPHY, HYPOMYELINATING, 6 https://db.gestaltmatcher.org/patients/image_22770 female TUBB4A http://identifiers.org/ncbigene/10382 Asian - South/Indian "" 22770 MRI 2024-12-04 08:35:54 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 4 0 T2w, axial NANDO:2201290 MONDO:0012905 OMIM:612438 https://db.gestaltmatcher.org/patients/12975 12975 LEUKODYSTROPHY, HYPOMYELINATING, 6 https://db.gestaltmatcher.org/patients/image_22770 female TUBB4A http://identifiers.org/ncbigene/10382 Asian - South/Indian "" 22770 MRI 2024-12-04 08:35:54 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 4 0 T2w, axial NANDO:1200578 MONDO:0012905 OMIM:612438 https://db.gestaltmatcher.org/patients/12975 12975 LEUKODYSTROPHY, HYPOMYELINATING, 6 https://db.gestaltmatcher.org/patients/image_22771 female TUBB4A http://identifiers.org/ncbigene/10382 Asian - South/Indian "" 22771 MRI 2024-12-04 08:36:16 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 4 0 T1w, sagittal NANDO:2201290 MONDO:0012905 OMIM:612438 https://db.gestaltmatcher.org/patients/12975 12975 LEUKODYSTROPHY, HYPOMYELINATING, 6 https://db.gestaltmatcher.org/patients/image_22771 female TUBB4A http://identifiers.org/ncbigene/10382 Asian - South/Indian "" 22771 MRI 2024-12-04 08:36:16 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 4 0 T1w, sagittal NANDO:2200895 MONDO:0012471 OMIM:610329 https://db.gestaltmatcher.org/patients/12994 12994 AICARDI-GOUTIERES SYNDROME 3 https://db.gestaltmatcher.org/patients/image_22811 female RNASEH2C http://identifiers.org/ncbigene/84153 Asian - South/Indian "" 22811 MRI 2024-12-04 20:34:00 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 1 0 T1w, axial NANDO:2200895 MONDO:0012471 OMIM:610329 https://db.gestaltmatcher.org/patients/12994 12994 AICARDI-GOUTIERES SYNDROME 3 https://db.gestaltmatcher.org/patients/image_22812 female RNASEH2C http://identifiers.org/ncbigene/84153 Asian - South/Indian "" 22812 MRI 2024-12-04 20:34:32 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 1 0 T1w, sagittal NANDO:1200071 MONDO:0010100 OMIM:272800 https://db.gestaltmatcher.org/patients/12995 12995 TAY-SACHS DISEASE https://db.gestaltmatcher.org/patients/image_22813 male HEXA http://identifiers.org/ncbigene/3073 Asian - South/Indian "" 22813 MRI 2024-12-04 20:42:25 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 2 0 T2w, axial NANDO:2201199 MONDO:0010100 OMIM:272800 https://db.gestaltmatcher.org/patients/12995 12995 TAY-SACHS DISEASE https://db.gestaltmatcher.org/patients/image_22813 male HEXA http://identifiers.org/ncbigene/3073 Asian - South/Indian "" 22813 MRI 2024-12-04 20:42:25 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 2 0 T2w, axial NANDO:1200071 MONDO:0010100 OMIM:272800 https://db.gestaltmatcher.org/patients/12995 12995 TAY-SACHS DISEASE https://db.gestaltmatcher.org/patients/image_22814 male HEXA http://identifiers.org/ncbigene/3073 Asian - South/Indian "" 22814 MRI 2024-12-04 20:42:52 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 2 0 T1w, sagittal NANDO:2201199 MONDO:0010100 OMIM:272800 https://db.gestaltmatcher.org/patients/12995 12995 TAY-SACHS DISEASE https://db.gestaltmatcher.org/patients/image_22814 male HEXA http://identifiers.org/ncbigene/3073 Asian - South/Indian "" 22814 MRI 2024-12-04 20:42:52 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 2 0 T1w, sagittal NANDO:1200653 MONDO:0010651 OMIM:309400 https://db.gestaltmatcher.org/patients/12996 12996 MENKES DISEASE https://db.gestaltmatcher.org/patients/image_22815 male ATP7A http://identifiers.org/ncbigene/538 Asian - South/Indian "" 22815 MRI 2024-12-04 21:24:51 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 9 T1w, axial NANDO:2200580 MONDO:0010651 OMIM:309400 https://db.gestaltmatcher.org/patients/12996 12996 MENKES DISEASE https://db.gestaltmatcher.org/patients/image_22815 male ATP7A http://identifiers.org/ncbigene/538 Asian - South/Indian "" 22815 MRI 2024-12-04 21:24:51 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 9 T1w, axial NANDO:1200653 MONDO:0010651 OMIM:309400 https://db.gestaltmatcher.org/patients/12996 12996 MENKES DISEASE https://db.gestaltmatcher.org/patients/image_22816 male ATP7A http://identifiers.org/ncbigene/538 Asian - South/Indian "" 22816 MRI 2024-12-04 21:25:23 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 9 T1w, sagittal NANDO:2200580 MONDO:0010651 OMIM:309400 https://db.gestaltmatcher.org/patients/12996 12996 MENKES DISEASE https://db.gestaltmatcher.org/patients/image_22816 male ATP7A http://identifiers.org/ncbigene/538 Asian - South/Indian "" 22816 MRI 2024-12-04 21:25:23 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 9 T1w, sagittal NANDO:2200895 MONDO:0012471 OMIM:610329 https://db.gestaltmatcher.org/patients/13001 13001 AICARDI-GOUTIERES SYNDROME 3 https://db.gestaltmatcher.org/patients/image_22825 male RNASEH2C http://identifiers.org/ncbigene/84153 Asian - South/Indian "" 22825 MRI 2024-12-05 07:30:16 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 8 T1w, axial NANDO:2200895 MONDO:0012471 OMIM:610329 https://db.gestaltmatcher.org/patients/13001 13001 AICARDI-GOUTIERES SYNDROME 3 https://db.gestaltmatcher.org/patients/image_22826 male RNASEH2C http://identifiers.org/ncbigene/84153 Asian - South/Indian "" 22826 MRI 2024-12-05 07:30:40 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 0 8 T2w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22835 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22835 MRI 2024-12-05 08:55:28 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T1w, sagittal, native NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22835 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22835 MRI 2024-12-05 08:55:28 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T1w, sagittal, native NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22836 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22836 MRI 2024-12-05 08:56:10 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T1w, sagittal, with contrast agent NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22836 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22836 MRI 2024-12-05 08:56:10 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T1w, sagittal, with contrast agent NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22837 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22837 MRI 2024-12-05 08:56:59 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22837 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22837 MRI 2024-12-05 08:56:59 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22838 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22838 MRI 2024-12-05 08:57:15 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 FLAIR, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22838 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22838 MRI 2024-12-05 08:57:15 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 FLAIR, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22839 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22839 MRI 2024-12-05 08:57:42 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T1w, axial, with contrast agent NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22839 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22839 MRI 2024-12-05 08:57:42 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T1w, axial, with contrast agent NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22840 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22840 MRI 2024-12-05 08:58:02 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T1w, coronal, with contrast agent NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22840 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22840 MRI 2024-12-05 08:58:02 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 3 0 T1w, coronal, with contrast agent NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22847 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22847 MRI 2024-12-05 09:01:38 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T2w, axial, with contrast agent NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22847 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22847 MRI 2024-12-05 09:01:38 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T2w, axial, with contrast agent NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22848 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22848 MRI 2024-12-05 09:02:01 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T1w,axial, native NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22848 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22848 MRI 2024-12-05 09:02:01 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T1w,axial, native NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22849 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22849 MRI 2024-12-05 09:03:14 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T2w, axial, native NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22849 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22849 MRI 2024-12-05 09:03:14 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T2w, axial, native NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22850 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22850 MRI 2024-12-05 09:03:39 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T1w, coronal, with contrast agent NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22850 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22850 MRI 2024-12-05 09:03:39 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T1w, coronal, with contrast agent NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22851 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22851 MRI 2024-12-05 09:03:53 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T1w, axial, with contrast agent NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22851 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22851 MRI 2024-12-05 09:03:53 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T1w, axial, with contrast agent NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22852 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22852 MRI 2024-12-05 09:04:07 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T1w, sagittal, with contrast agent NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13005 13005 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22852 male ZEB2 http://identifiers.org/ncbigene/9839 American - Latin/Hispanic "" 22852 MRI 2024-12-05 09:04:07 UTC 24092421 http://rdf.ncbi.nlm.nih.gov/pubmed/24092421 13 0 T1w, sagittal, with contrast agent NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13080 13080 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22995 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22995 MRI 2024-12-15 11:19:45 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 5 7 T1w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13080 13080 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22995 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22995 MRI 2024-12-15 11:19:45 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 5 7 T1w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13080 13080 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22996 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22996 MRI 2024-12-15 11:20:07 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 5 7 T2w, coronal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13080 13080 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22996 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22996 MRI 2024-12-15 11:20:07 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 5 7 T2w, coronal NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13156 13156 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23384 male KRAS http://identifiers.org/ncbigene/3845 Unknown "" 23384 Frontal face 2025-01-12 17:37:28 UTC 17056636 http://rdf.ncbi.nlm.nih.gov/pubmed/17056636 1 2 Died from unexplained sudden death at 14 months of age. NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13156 13156 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23384 male KRAS http://identifiers.org/ncbigene/3845 Unknown "" 23384 Frontal face 2025-01-12 17:37:28 UTC 17056636 http://rdf.ncbi.nlm.nih.gov/pubmed/17056636 1 2 Died from unexplained sudden death at 14 months of age. NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13003 13003 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22829 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22829 Others 2024-12-05 08:37:11 UTC "" "" 0 0 8 days NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13003 13003 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22829 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22829 Others 2024-12-05 08:37:11 UTC "" "" 0 0 8 days NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13003 13003 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22830 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22830 MRI 2024-12-05 07:56:05 UTC "" "" 0 9 T1w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13003 13003 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22830 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22830 MRI 2024-12-05 07:56:05 UTC "" "" 0 9 T1w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13003 13003 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22831 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22831 MRI 2024-12-05 07:56:24 UTC "" "" 0 9 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13003 13003 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22831 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22831 MRI 2024-12-05 07:56:24 UTC "" "" 0 9 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12951 12951 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22711 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22711 Profile 2024-11-30 20:43:19 UTC 34466018 http://rdf.ncbi.nlm.nih.gov/pubmed/34466018 1 10 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12951 12951 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22711 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22711 Profile 2024-11-30 20:43:19 UTC 34466018 http://rdf.ncbi.nlm.nih.gov/pubmed/34466018 1 10 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12960 12960 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22728 male ZEB2 http://identifiers.org/ncbigene/9839 African - North "" 22728 Frontal face 2024-12-02 07:39:08 UTC 34012377 http://rdf.ncbi.nlm.nih.gov/pubmed/34012377 1 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12960 12960 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22728 male ZEB2 http://identifiers.org/ncbigene/9839 African - North "" 22728 Frontal face 2024-12-02 07:39:08 UTC 34012377 http://rdf.ncbi.nlm.nih.gov/pubmed/34012377 1 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13079 13079 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22991 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22991 Frontal face 2024-12-15 11:05:34 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 1 3 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13079 13079 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22991 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22991 Frontal face 2024-12-15 11:05:34 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 1 3 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13079 13079 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22992 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22992 Others 2024-12-15 11:05:52 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 1 3 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13079 13079 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22992 male ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22992 Others 2024-12-15 11:05:52 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 1 3 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13081 13081 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22993 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22993 Frontal face 2024-12-15 11:18:46 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 4 6 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13081 13081 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22993 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22993 Frontal face 2024-12-15 11:18:46 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 4 6 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13080 13080 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22994 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22994 Frontal face 2024-12-15 11:19:25 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 5 8 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13080 13080 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22994 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22994 Frontal face 2024-12-15 11:19:25 UTC 18230842 http://rdf.ncbi.nlm.nih.gov/pubmed/18230842 5 8 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13109 13109 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23365 male KRAS http://identifiers.org/ncbigene/3845 Unknown "" 23365 Frontal face 2025-01-12 17:09:55 UTC 17056636 http://rdf.ncbi.nlm.nih.gov/pubmed/17056636 0 7 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13109 13109 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23365 male KRAS http://identifiers.org/ncbigene/3845 Unknown "" 23365 Frontal face 2025-01-12 17:09:55 UTC 17056636 http://rdf.ncbi.nlm.nih.gov/pubmed/17056636 0 7 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13109 13109 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23366 male KRAS http://identifiers.org/ncbigene/3845 Unknown "" 23366 Limbs 2025-01-12 17:10:53 UTC 17056636 http://rdf.ncbi.nlm.nih.gov/pubmed/17056636 0 7 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13109 13109 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23366 male KRAS http://identifiers.org/ncbigene/3845 Unknown "" 23366 Limbs 2025-01-12 17:10:53 UTC 17056636 http://rdf.ncbi.nlm.nih.gov/pubmed/17056636 0 7 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13156 13156 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23385 male KRAS http://identifiers.org/ncbigene/3845 Unknown "" 23385 Limbs 2025-01-12 17:38:09 UTC 17056636 http://rdf.ncbi.nlm.nih.gov/pubmed/17056636 1 2 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13156 13156 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23385 male KRAS http://identifiers.org/ncbigene/3845 Unknown "" 23385 Limbs 2025-01-12 17:38:09 UTC 17056636 http://rdf.ncbi.nlm.nih.gov/pubmed/17056636 1 2 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/12884 12884 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_22557 male KMT2A http://identifiers.org/ncbigene/4297 European "" 22557 Frontal face 2024-11-21 16:46:43 UTC "" "" 5 6 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/12884 12884 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_22558 male KMT2A http://identifiers.org/ncbigene/4297 European "" 22558 Limbs 2024-11-21 16:47:28 UTC "" "" 6 6 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13003 13003 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22834 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22834 Frontal face 2024-12-05 08:36:58 UTC "" "" 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13003 13003 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22834 female ZEB2 http://identifiers.org/ncbigene/9839 Asian "" 22834 Frontal face 2024-12-05 08:36:58 UTC "" "" 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22629 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22629 MRI 2024-11-28 15:34:41 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T1w, sagittal, marking NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22629 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22629 MRI 2024-11-28 15:34:41 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T1w, sagittal, marking NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22630 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22630 MRI 2024-11-28 15:37:52 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T2w, coronal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22630 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22630 MRI 2024-11-28 15:37:52 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T2w, coronal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22631 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22631 MRI 2024-11-28 15:38:02 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22631 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22631 MRI 2024-11-28 15:38:02 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22632 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22632 MRI 2024-11-28 15:37:39 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22632 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22632 MRI 2024-11-28 15:37:39 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22633 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22633 MRI 2024-11-28 15:38:49 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12924 12924 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22633 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22633 MRI 2024-11-28 15:38:49 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22634 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22634 MRI 2024-11-28 15:50:17 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T1w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22634 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22634 MRI 2024-11-28 15:50:17 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T1w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22635 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22635 MRI 2024-11-28 15:51:01 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T2w, coronal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22635 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22635 MRI 2024-11-28 15:51:01 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T2w, coronal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22636 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22636 MRI 2024-11-28 15:51:38 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22636 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22636 MRI 2024-11-28 15:51:38 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22637 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22637 MRI 2024-11-28 15:52:07 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22637 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22637 MRI 2024-11-28 15:52:07 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22638 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22638 MRI 2024-11-28 15:52:38 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12925 12925 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22638 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22638 MRI 2024-11-28 15:52:38 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 2 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12926 12926 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22639 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22639 MRI 2024-11-28 16:23:30 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T1w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12926 12926 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22639 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22639 MRI 2024-11-28 16:23:30 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 6 0 T1w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12927 12927 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22640 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22640 MRI 2024-11-29 08:10:13 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 T1w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12927 12927 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22640 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22640 MRI 2024-11-29 08:10:13 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 T1w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12927 12927 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22641 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22641 MRI 2024-11-29 08:07:28 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 T2w, coronal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12927 12927 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22641 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22641 MRI 2024-11-29 08:07:28 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 T2w, coronal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12927 12927 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22642 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22642 MRI 2024-11-29 08:08:39 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 T2w, axial, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12927 12927 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22642 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22642 MRI 2024-11-29 08:08:39 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 T2w, axial, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12928 12928 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22644 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22644 MRI 2024-11-29 08:22:31 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 9 0 T2w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12928 12928 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22644 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22644 MRI 2024-11-29 08:22:31 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 9 0 T2w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12929 12929 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22645 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22645 MRI 2024-11-29 08:27:28 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 13 0 T1w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12929 12929 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22645 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22645 MRI 2024-11-29 08:27:28 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 13 0 T1w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12930 12930 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22646 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22646 MRI 2024-11-29 08:45:31 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 0 7 T1w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12930 12930 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22646 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22646 MRI 2024-11-29 08:45:31 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 0 7 T1w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12931 12931 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22647 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22647 MRI 2024-11-29 08:51:01 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 2 9 T1w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12931 12931 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22647 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22647 MRI 2024-11-29 08:51:01 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 2 9 T1w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12931 12931 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22648 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22648 MRI 2024-11-29 08:51:38 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 2 9 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12931 12931 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22648 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22648 MRI 2024-11-29 08:51:38 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 2 9 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12932 12932 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22651 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22651 MRI 2024-11-29 08:58:14 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 3 6 T2w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12932 12932 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22651 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22651 MRI 2024-11-29 08:58:14 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 3 6 T2w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12932 12932 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22652 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22652 MRI 2024-11-29 08:58:57 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 3 6 T1w, coronal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12932 12932 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22652 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22652 MRI 2024-11-29 08:58:57 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 3 6 T1w, coronal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12932 12932 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22653 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22653 MRI 2024-11-29 08:59:24 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 3 6 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12932 12932 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22653 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22653 MRI 2024-11-29 08:59:24 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 3 6 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12932 12932 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22654 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22654 MRI 2024-11-29 08:59:55 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 3 6 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12932 12932 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22654 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22654 MRI 2024-11-29 08:59:55 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 3 6 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12936 12936 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22668 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22668 MRI 2024-11-29 12:50:01 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 11 0 T1w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12936 12936 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22668 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22668 MRI 2024-11-29 12:50:01 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 11 0 T1w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12936 12936 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22669 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22669 MRI 2024-11-29 12:50:31 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 11 0 T2w, axial, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12936 12936 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22669 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22669 MRI 2024-11-29 12:50:31 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 11 0 T2w, axial, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12936 12936 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22670 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22670 MRI 2024-11-29 12:50:57 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 11 0 T1w, axial, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12936 12936 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22670 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22670 MRI 2024-11-29 12:50:57 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 11 0 T1w, axial, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12937 12937 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22671 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22671 MRI 2024-11-29 12:57:16 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 1 2 T1w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12937 12937 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22671 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22671 MRI 2024-11-29 12:57:16 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 1 2 T1w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12938 12938 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22672 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22672 MRI 2024-11-29 13:03:57 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T1w, coronal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12938 12938 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22672 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22672 MRI 2024-11-29 13:03:57 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T1w, coronal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12938 12938 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22673 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22673 MRI 2024-11-29 13:04:33 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T2w, axial, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12938 12938 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22673 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22673 MRI 2024-11-29 13:04:33 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T2w, axial, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12938 12938 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22674 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22674 MRI 2024-11-29 13:05:07 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T2w, coronal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12938 12938 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22674 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22674 MRI 2024-11-29 13:05:07 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T2w, coronal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12939 12939 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22675 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22675 MRI 2024-11-29 13:22:13 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 1 6 FLAIR, Sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12939 12939 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22675 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22675 MRI 2024-11-29 13:22:13 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 1 6 FLAIR, Sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12939 12939 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22676 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22676 MRI 2024-11-29 13:23:54 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 1 6 Flair, coronal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12939 12939 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22676 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22676 MRI 2024-11-29 13:23:54 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 1 6 Flair, coronal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12940 12940 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22677 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22677 MRI 2024-11-29 13:28:40 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 5 T1w, sagittal, marked NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12940 12940 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22677 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22677 MRI 2024-11-29 13:28:40 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 5 5 T1w, sagittal, marked NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12941 12941 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22678 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22678 MRI 2024-11-29 13:34:10 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T1w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12941 12941 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22678 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22678 MRI 2024-11-29 13:34:10 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T1w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12941 12941 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22679 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22679 MRI 2024-11-29 13:35:04 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T1w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12941 12941 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22679 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22679 MRI 2024-11-29 13:35:04 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 8 0 T1w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12942 12942 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22680 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22680 MRI 2024-11-29 13:40:16 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12942 12942 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22680 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22680 MRI 2024-11-29 13:40:16 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 T2w, axial NANDO:1200576 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12967 12967 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22743 male PLP1 http://identifiers.org/ncbigene/5354 "" "" 22743 MRI 2024-12-03 08:32:46 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 1 3 T2w, axial NANDO:2201288 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12967 12967 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22743 male PLP1 http://identifiers.org/ncbigene/5354 "" "" 22743 MRI 2024-12-03 08:32:46 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 1 3 T2w, axial NANDO:1200576 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12967 12967 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22744 male PLP1 http://identifiers.org/ncbigene/5354 "" "" 22744 MRI 2024-12-03 08:33:07 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 1 3 T1w, axial NANDO:2201288 MONDO:0010714 OMIM:312080 https://db.gestaltmatcher.org/patients/12967 12967 PELIZAEUS-MERZBACHER DISEASE https://db.gestaltmatcher.org/patients/image_22744 male PLP1 http://identifiers.org/ncbigene/5354 "" "" 22744 MRI 2024-12-03 08:33:07 UTC 39470296 http://rdf.ncbi.nlm.nih.gov/pubmed/39470296 1 3 T1w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13004 13004 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22832 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22832 MRI 2024-12-05 08:34:03 UTC 34199024 http://rdf.ncbi.nlm.nih.gov/pubmed/34199024 0 4 T1w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13004 13004 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22832 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22832 MRI 2024-12-05 08:34:03 UTC 34199024 http://rdf.ncbi.nlm.nih.gov/pubmed/34199024 0 4 T1w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13004 13004 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22833 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22833 MRI 2024-12-05 08:34:23 UTC 34199024 http://rdf.ncbi.nlm.nih.gov/pubmed/34199024 0 4 T2w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/13004 13004 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22833 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22833 MRI 2024-12-05 08:34:23 UTC 34199024 http://rdf.ncbi.nlm.nih.gov/pubmed/34199024 0 4 T2w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12927 12927 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22643 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22643 MRI 2024-11-29 08:09:40 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12927 12927 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22643 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 22643 MRI 2024-11-29 08:09:40 UTC 27831545 http://rdf.ncbi.nlm.nih.gov/pubmed/27831545 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/128 128 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_159 male "" "" "" Lebanese 159 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/128 128 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_159 male "" "" "" Lebanese 159 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/129 129 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_160 female "" "" "" Lebanese 160 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/129 129 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_160 female "" "" "" Lebanese 160 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/130 130 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_161 male "" "" "" Lebanese 161 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/130 130 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_161 male "" "" "" Lebanese 161 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/131 131 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_162 male "" "" "" Lebanese 162 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/131 131 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_162 male "" "" "" Lebanese 162 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/13 13 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_18 male "" "" "" African-American 18 Frontal face 2022-07-21 14:34:04 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 7 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/13 13 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_18 male "" "" "" African-American 18 Frontal face 2022-07-21 14:34:04 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 7 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12961 12961 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22734 male "" "" Asian "" 22734 MRI 2024-12-02 08:17:45 UTC 15121779 http://rdf.ncbi.nlm.nih.gov/pubmed/15121779 0 0 T1w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12961 12961 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22734 male "" "" Asian "" 22734 MRI 2024-12-02 08:17:45 UTC 15121779 http://rdf.ncbi.nlm.nih.gov/pubmed/15121779 0 0 T1w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12961 12961 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22732 male "" "" Asian "" 22732 Frontal face 2024-12-02 08:17:08 UTC 15121779 http://rdf.ncbi.nlm.nih.gov/pubmed/15121779 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12961 12961 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22732 male "" "" Asian "" 22732 Frontal face 2024-12-02 08:17:08 UTC 15121779 http://rdf.ncbi.nlm.nih.gov/pubmed/15121779 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12961 12961 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22733 male "" "" Asian "" 22733 Profile 2024-12-02 08:17:20 UTC 15121779 http://rdf.ncbi.nlm.nih.gov/pubmed/15121779 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12961 12961 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22733 male "" "" Asian "" 22733 Profile 2024-12-02 08:17:20 UTC 15121779 http://rdf.ncbi.nlm.nih.gov/pubmed/15121779 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12861 12861 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_22517 male "" "" African, African - Sub-Saharan "" 22517 Frontal face 2024-11-18 21:36:45 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12862 12862 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_22518 male "" "" African, African - Sub-Saharan "" 22518 Frontal face 2024-11-18 21:45:09 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12863 12863 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_22519 female "" "" African, African - Sub-Saharan "" 22519 Frontal face 2024-11-18 21:51:57 UTC "" "" 0 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/12864 12864 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_22520 male "" "" African, African - Sub-Saharan "" 22520 Frontal face 2024-11-18 21:57:42 UTC "" "" 0 0 "" NANDO:2200529 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/12869 12869 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_22525 female "" "" European - Northwestern "" 22525 Frontal face 2024-11-20 11:46:56 UTC "" "" 56 0 "" NANDO:1201064 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/12869 12869 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_22525 female "" "" European - Northwestern "" 22525 Frontal face 2024-11-20 11:46:56 UTC "" "" 56 0 "" NANDO:2200529 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/12869 12869 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_22526 female "" "" European - Northwestern "" 22526 Consent 2024-11-20 11:47:20 UTC "" "" 0 0 "" NANDO:1201064 MONDO:0010787 OMIM:530000 https://db.gestaltmatcher.org/patients/12869 12869 KEARNS-SAYRE SYNDROME https://db.gestaltmatcher.org/patients/image_22526 female "" "" European - Northwestern "" 22526 Consent 2024-11-20 11:47:20 UTC "" "" 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12948 12948 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22701 male "" "" "" "" 22701 MRI 2024-11-30 19:55:31 UTC 35844343 http://rdf.ncbi.nlm.nih.gov/pubmed/35844343 0 4 T1w, sagittal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12948 12948 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22701 male "" "" "" "" 22701 MRI 2024-11-30 19:55:31 UTC 35844343 http://rdf.ncbi.nlm.nih.gov/pubmed/35844343 0 4 T1w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12948 12948 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22702 male "" "" "" "" 22702 MRI 2024-11-30 19:55:16 UTC 35844343 http://rdf.ncbi.nlm.nih.gov/pubmed/35844343 0 4 T1w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12948 12948 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22702 male "" "" "" "" 22702 MRI 2024-11-30 19:55:16 UTC 35844343 http://rdf.ncbi.nlm.nih.gov/pubmed/35844343 0 4 T1w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12948 12948 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22703 male "" "" "" "" 22703 MRI 2024-11-30 19:56:05 UTC 35844343 http://rdf.ncbi.nlm.nih.gov/pubmed/35844343 0 4 T1w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/12948 12948 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22703 male "" "" "" "" 22703 MRI 2024-11-30 19:56:05 UTC 35844343 http://rdf.ncbi.nlm.nih.gov/pubmed/35844343 0 4 T1w, axial NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1499 1499 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1970 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1970 Frontal face 2022-02-25 16:56:11 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1499 1499 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1971 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1971 Profile 2021-04-14 12:11:43 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1495 1495 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1974 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1974 Frontal face 2022-02-25 16:56:15 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1495 1495 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1975 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1975 Profile 2021-04-14 12:11:43 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1496 1496 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1976 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1976 Frontal face 2022-02-25 16:56:16 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1496 1496 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1977 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1977 Profile 2021-04-14 12:11:43 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1497 1497 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1978 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1978 Frontal face 2022-02-25 16:56:19 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1497 1497 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1979 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1979 Profile 2021-04-14 12:11:43 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1498 1498 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1980 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1980 Frontal face 2022-02-25 16:56:20 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1498 1498 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1982 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1982 Profile 2021-04-14 12:11:43 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1507 1507 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1994 unknown KMT2A http://identifiers.org/ncbigene/4297 European guessed by Merle ten Hagen 1994 Frontal face 2022-02-25 16:56:34 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1507 1507 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1995 unknown KMT2A http://identifiers.org/ncbigene/4297 European guessed by Merle ten Hagen 1995 Profile 2021-05-01 16:04:06 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1508 1508 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1998 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 1998 Frontal face 2022-02-25 16:56:38 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1509 1509 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2000 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 2000 Frontal face 2022-02-25 16:56:41 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1510 1510 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2002 male KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 2002 Frontal face 2022-02-25 16:56:42 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1512 1512 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2005 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 2005 Frontal face 2022-02-25 16:56:46 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1513 1513 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2007 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 2007 Frontal face 2022-02-25 16:56:49 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1506 1506 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2009 male KMT2A http://identifiers.org/ncbigene/4297 Asian - West/Middle Eastern, European guessed by Merle ten Hagen 2009 Frontal face 2022-02-25 16:56:52 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1514 1514 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2012 unknown KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 2012 Frontal face 2022-02-25 16:56:56 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/136 136 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_169 male ELN http://identifiers.org/ncbigene/2006 "" Congolese 169 Frontal face 2022-04-18 21:44:34 UTC 27014455 http://rdf.ncbi.nlm.nih.gov/pubmed/27014455 8 2 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/136 136 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_169 male ELN http://identifiers.org/ncbigene/2006 "" Congolese 169 Frontal face 2022-04-18 21:44:34 UTC 27014455 http://rdf.ncbi.nlm.nih.gov/pubmed/27014455 8 2 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13214 13214 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23389 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23389 Frontal face 2025-01-12 20:08:24 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 16 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13214 13214 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23389 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23389 Frontal face 2025-01-12 20:08:24 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 16 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13214 13214 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23390 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23390 Profile 2025-01-12 20:08:32 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 16 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13214 13214 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23390 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23390 Profile 2025-01-12 20:08:32 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 16 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13214 13214 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23391 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23391 Limbs 2025-01-12 20:09:14 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 16 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13214 13214 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23391 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23391 Limbs 2025-01-12 20:09:14 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 16 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13215 13215 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23392 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23392 Frontal face 2025-01-12 20:17:56 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 14 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13215 13215 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23392 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23392 Frontal face 2025-01-12 20:17:56 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 14 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13215 13215 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23393 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23393 Profile 2025-01-12 20:18:03 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 14 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13215 13215 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23393 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23393 Profile 2025-01-12 20:18:03 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 14 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13215 13215 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23394 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23394 Limbs 2025-01-12 20:18:17 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 14 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13215 13215 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23394 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23394 Limbs 2025-01-12 20:18:17 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 14 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13215 13215 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23395 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23395 Limbs 2025-01-12 20:18:29 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 14 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13215 13215 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23395 male DHCR7 http://identifiers.org/ncbigene/1717 "" Turkey 23395 Limbs 2025-01-12 20:18:29 UTC 22211794 http://rdf.ncbi.nlm.nih.gov/pubmed/22211794 14 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1500 1500 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1972 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 1972 Frontal face 2022-02-25 16:56:12 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/1500 1500 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_1973 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 1973 Profile 2021-04-14 12:11:43 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13294 13294 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23596 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23596 Frontal face 2025-01-21 19:48:05 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 10 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13294 13294 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23596 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23596 Frontal face 2025-01-21 19:48:05 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 10 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13294 13294 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23598 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23598 Limbs 2025-01-21 19:48:32 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 10 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13294 13294 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23598 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23598 Limbs 2025-01-21 19:48:32 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 10 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13337 13337 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23677 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23677 Frontal face 2025-01-25 16:16:24 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 7 1 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13337 13337 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23677 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23677 Frontal face 2025-01-25 16:16:24 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 7 1 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13337 13337 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23678 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23678 Frontal face 2025-01-25 16:16:46 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 7 1 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13337 13337 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23678 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23678 Frontal face 2025-01-25 16:16:46 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 7 1 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13337 13337 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23679 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23679 Profile 2025-01-25 16:17:05 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 7 1 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13337 13337 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23679 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23679 Profile 2025-01-25 16:17:05 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 7 1 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13338 13338 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23680 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23680 Frontal face 2025-01-25 16:36:16 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 1 6 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13338 13338 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23680 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23680 Frontal face 2025-01-25 16:36:16 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 1 6 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13339 13339 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23682 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23682 Frontal face 2025-01-25 17:13:59 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 6 1 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13339 13339 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23682 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23682 Frontal face 2025-01-25 17:13:59 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 6 1 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13339 13339 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23683 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23683 Profile 2025-01-25 17:14:23 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 6 1 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13339 13339 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23683 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23683 Profile 2025-01-25 17:14:23 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 6 1 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13340 13340 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23684 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23684 Frontal face 2025-01-25 17:40:36 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 3 4 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13340 13340 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23684 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23684 Frontal face 2025-01-25 17:40:36 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 3 4 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13340 13340 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23685 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23685 Profile 2025-01-25 17:41:01 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 3 4 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13340 13340 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23685 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23685 Profile 2025-01-25 17:41:01 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 3 4 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13340 13340 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23686 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23686 Frontal face 2025-01-25 17:41:33 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 1 3 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13340 13340 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23686 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23686 Frontal face 2025-01-25 17:41:33 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 1 3 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13341 13341 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23688 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23688 Frontal face 2025-01-26 12:34:17 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 0 10 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13341 13341 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23688 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23688 Frontal face 2025-01-26 12:34:17 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 0 10 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13341 13341 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23689 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23689 Profile 2025-01-26 12:34:34 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 0 10 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13341 13341 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23689 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23689 Profile 2025-01-26 12:34:34 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 0 10 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13342 13342 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23690 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23690 Frontal face 2025-01-26 13:13:30 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 5 10 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13342 13342 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23690 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23690 Frontal face 2025-01-26 13:13:30 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 5 10 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13342 13342 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23691 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23691 Profile 2025-01-26 13:13:47 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 5 10 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13342 13342 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23691 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23691 Profile 2025-01-26 13:13:47 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 5 10 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13342 13342 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23692 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23692 Limbs 2025-01-26 13:14:09 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 5 10 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13342 13342 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23692 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23692 Limbs 2025-01-26 13:14:09 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 5 10 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13341 13341 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23693 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23693 Limbs 2025-01-26 13:17:19 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 1 5 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13341 13341 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23693 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23693 Limbs 2025-01-26 13:17:19 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 1 5 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13341 13341 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23694 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23694 MRI 2025-01-26 13:17:54 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 0 3 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13341 13341 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23694 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23694 MRI 2025-01-26 13:17:54 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 0 3 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13340 13340 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23687 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23687 MRI 2025-01-25 17:47:24 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" 9 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13340 13340 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23687 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23687 MRI 2025-01-25 17:47:24 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" 9 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23575 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23575 Frontal face 2025-01-21 19:16:21 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23575 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23575 Frontal face 2025-01-21 19:16:21 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23576 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23576 Frontal face 2025-01-21 19:18:15 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 8 "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23576 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23576 Frontal face 2025-01-21 19:18:15 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 8 "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23577 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23577 Profile 2025-01-21 19:18:47 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23577 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23577 Profile 2025-01-21 19:18:47 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23578 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23578 Limbs 2025-01-21 19:19:18 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23578 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23578 Limbs 2025-01-21 19:19:18 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 16 "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13338 13338 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23681 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23681 Profile 2025-01-25 16:36:46 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 1 "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13338 13338 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23681 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23681 Profile 2025-01-25 16:36:46 UTC 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 1 "" "" NANDO:1201075 MONDO:0007078 OMIM:103580 https://db.gestaltmatcher.org/patients/13323 13323 PSEUDOHYPOPARATHYROIDISM, TYPE IA https://db.gestaltmatcher.org/patients/image_23647 female COL2A1 http://identifiers.org/ncbigene/1280 Caucasian, European, European - Northwestern "" 23647 Frontal face 2025-01-24 14:27:44 UTC 17318849 http://rdf.ncbi.nlm.nih.gov/pubmed/17318849 "" "" "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13323 13323 STICKLER SYNDROME, TYPE I https://db.gestaltmatcher.org/patients/image_23647 female COL2A1 http://identifiers.org/ncbigene/1280 Caucasian, European, European - Northwestern "" 23647 Frontal face 2025-01-24 14:27:44 UTC 17318849 http://rdf.ncbi.nlm.nih.gov/pubmed/17318849 "" "" "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/13313 13313 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_23617 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian, European "" 23617 Frontal face 2025-01-22 14:24:05 UTC "" "" "" "" "" NANDO:2200457 MONDO:0011273 OMIM:602782 https://db.gestaltmatcher.org/patients/13203 13203 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME https://db.gestaltmatcher.org/patients/image_23335 male RET http://identifiers.org/ncbigene/5979 "" "" 23335 Frontal face 2025-01-08 15:00:43 UTC 35569068 http://rdf.ncbi.nlm.nih.gov/pubmed/35569068 66 0 "" NANDO:2200457 MONDO:0011273 OMIM:602782 https://db.gestaltmatcher.org/patients/13203 13203 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME https://db.gestaltmatcher.org/patients/image_23335 male MAP2K1 http://identifiers.org/ncbigene/5604 "" "" 23335 Frontal face 2025-01-08 15:00:43 UTC 35569068 http://rdf.ncbi.nlm.nih.gov/pubmed/35569068 66 0 "" NANDO:2200457 MONDO:0011273 OMIM:602782 https://db.gestaltmatcher.org/patients/13203 13203 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME https://db.gestaltmatcher.org/patients/image_23336 male RET http://identifiers.org/ncbigene/5979 "" "" 23336 Frontal face 2025-01-08 15:01:00 UTC 35569068 http://rdf.ncbi.nlm.nih.gov/pubmed/35569068 66 0 "" NANDO:2200457 MONDO:0011273 OMIM:602782 https://db.gestaltmatcher.org/patients/13203 13203 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME https://db.gestaltmatcher.org/patients/image_23336 male MAP2K1 http://identifiers.org/ncbigene/5604 "" "" 23336 Frontal face 2025-01-08 15:01:00 UTC 35569068 http://rdf.ncbi.nlm.nih.gov/pubmed/35569068 66 0 "" NANDO:2200457 MONDO:0011273 OMIM:602782 https://db.gestaltmatcher.org/patients/13203 13203 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME https://db.gestaltmatcher.org/patients/image_23337 male MAP2K1 http://identifiers.org/ncbigene/5604 "" "" 23337 Frontal face 2025-01-08 15:01:14 UTC 35569068 http://rdf.ncbi.nlm.nih.gov/pubmed/35569068 66 0 "" NANDO:2200457 MONDO:0011273 OMIM:602782 https://db.gestaltmatcher.org/patients/13203 13203 HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME https://db.gestaltmatcher.org/patients/image_23337 male RET http://identifiers.org/ncbigene/5979 "" "" 23337 Frontal face 2025-01-08 15:01:14 UTC 35569068 http://rdf.ncbi.nlm.nih.gov/pubmed/35569068 66 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13216 13216 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23396 male "" "" European English-Scottish parents 23396 Frontal face 2025-01-12 20:48:52 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 0 0 Age unknown NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13216 13216 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23396 male "" "" European English-Scottish parents 23396 Frontal face 2025-01-12 20:48:52 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 0 0 Age unknown NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13216 13216 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23397 male "" "" European English-Scottish parents 23397 Profile 2025-01-12 20:49:04 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 0 0 Age unknown NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13216 13216 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23397 male "" "" European English-Scottish parents 23397 Profile 2025-01-12 20:49:04 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 0 0 Age unknown NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13216 13216 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23398 male "" "" European English-Scottish parents 23398 Limbs 2025-01-12 20:50:06 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 0 0 Age unknown NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13216 13216 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23398 male "" "" European English-Scottish parents 23398 Limbs 2025-01-12 20:50:06 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 0 0 Age unknown NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/150 150 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_183 female "" "" American - Native Caucasian 183 Frontal face 2022-04-18 21:44:34 UTC 31964759 http://rdf.ncbi.nlm.nih.gov/pubmed/31964759 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/150 150 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_183 female "" "" American - Native Caucasian 183 Frontal face 2022-04-18 21:44:34 UTC 31964759 http://rdf.ncbi.nlm.nih.gov/pubmed/31964759 2 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13209 13209 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23360 male "" "" European Scottish, Irish 23360 Frontal face 2025-01-12 16:03:29 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 10 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13209 13209 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23360 male "" "" European Scottish, Irish 23360 Frontal face 2025-01-12 16:03:29 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 10 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13210 13210 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23361 female "" "" European Scottish, Irish 23361 Frontal face 2025-01-12 16:18:24 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 10 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13210 13210 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23361 female "" "" European Scottish, Irish 23361 Frontal face 2025-01-12 16:18:24 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 10 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13217 13217 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23399 male "" "" European English-Scottish parents 23399 Frontal face 2025-01-12 20:52:01 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 1 9 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13217 13217 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23399 male "" "" European English-Scottish parents 23399 Frontal face 2025-01-12 20:52:01 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 1 9 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13217 13217 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23400 male "" "" European English-Scottish parents 23400 Profile 2025-01-12 20:52:10 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 1 9 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13217 13217 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23400 male "" "" European English-Scottish parents 23400 Profile 2025-01-12 20:52:10 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 1 9 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13218 13218 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23401 female "" "" European Mother Irish 23401 Frontal face 2025-01-12 21:13:26 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 11 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13218 13218 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23401 female "" "" European Mother Irish 23401 Frontal face 2025-01-12 21:13:26 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 11 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13218 13218 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23402 female "" "" European Mother Irish 23402 Profile 2025-01-12 21:13:41 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 11 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13218 13218 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23402 female "" "" European Mother Irish 23402 Profile 2025-01-12 21:13:41 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 11 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13218 13218 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23403 female "" "" European Mother Irish 23403 Limbs 2025-01-12 21:13:53 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 11 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13218 13218 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23403 female "" "" European Mother Irish 23403 Limbs 2025-01-12 21:13:53 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 11 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13218 13218 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23404 female "" "" European Mother Irish 23404 Limbs 2025-01-12 21:14:05 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 11 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13218 13218 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23404 female "" "" European Mother Irish 23404 Limbs 2025-01-12 21:14:05 UTC 9714007 http://rdf.ncbi.nlm.nih.gov/pubmed/9714007 11 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13315 13315 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_23619 unknown "" "" Asian Chinese 23619 Others 2025-01-22 15:08:15 UTC 37371851 http://rdf.ncbi.nlm.nih.gov/pubmed/37371851 "" "" Fetal ultrasound, gestational week unknown (between 12-22) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/163 163 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_11537 female "" "" "" African 11537 Profile 2022-07-23 13:07:04 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 0 0 (infant) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/163 163 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_11537 female "" "" "" African 11537 Profile 2022-07-23 13:07:04 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 0 0 (infant) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/146 146 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_179 male "" "" "" Caucasian 179 Frontal face 2022-02-25 16:08:11 UTC 31964759 http://rdf.ncbi.nlm.nih.gov/pubmed/31964759 0 1 1wk NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/146 146 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_179 male "" "" "" Caucasian 179 Frontal face 2022-02-25 16:08:11 UTC 31964759 http://rdf.ncbi.nlm.nih.gov/pubmed/31964759 0 1 1wk NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13211 13211 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23362 male "" "" "" French, Canadian parents 23362 Profile 2025-01-12 16:45:05 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 0 0 Age unknown NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13211 13211 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23362 male "" "" "" French, Canadian parents 23362 Profile 2025-01-12 16:45:05 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 0 0 Age unknown NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13211 13211 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23363 male "" "" "" French, Canadian parents 23363 Frontal face 2025-01-12 16:45:30 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 0 0 Age unknown NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13211 13211 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23363 male "" "" "" French, Canadian parents 23363 Frontal face 2025-01-12 16:45:30 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 0 0 Age unknown NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13211 13211 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23364 male "" "" "" French, Canadian parents 23364 Limbs 2025-01-12 16:45:41 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 0 0 Age unknown NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13211 13211 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23364 male "" "" "" French, Canadian parents 23364 Limbs 2025-01-12 16:45:41 UTC 4389828 http://rdf.ncbi.nlm.nih.gov/pubmed/4389828 0 0 Age unknown NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/161 161 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5072 male "" "" "" Caucasian 5072 Frontal face 2022-02-25 22:46:16 UTC 10326175 http://rdf.ncbi.nlm.nih.gov/pubmed/10326175 0 0 child NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/161 161 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5072 male "" "" "" Caucasian 5072 Frontal face 2022-02-25 22:46:16 UTC 10326175 http://rdf.ncbi.nlm.nih.gov/pubmed/10326175 0 0 child NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/132 132 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_163 female "" "" "" Lebanese 163 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/132 132 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_163 female "" "" "" Lebanese 163 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/133 133 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_164 female "" "" "" Lebanese 164 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 13 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/133 133 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_164 female "" "" "" Lebanese 164 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/134 134 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_165 male "" "" "" Moroccan 165 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 0 "" NANDO:2200286 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159 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_198 female "" "" "" Caucasian 198 Frontal face 2022-04-18 21:44:34 UTC 10326175 http://rdf.ncbi.nlm.nih.gov/pubmed/10326175 15 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/159 159 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_199 female "" "" "" Caucasian 199 Frontal face 2022-04-18 21:44:34 UTC 10326175 http://rdf.ncbi.nlm.nih.gov/pubmed/10326175 16 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/159 159 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_199 female "" "" "" Caucasian 199 Frontal face 2022-04-18 21:44:34 UTC 10326175 http://rdf.ncbi.nlm.nih.gov/pubmed/10326175 16 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15 15 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_20 female "" "" "" African-American 20 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15 15 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_20 female "" "" "" African-American 20 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/160 160 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_200 female "" "" "" Caucasian 200 Frontal face 2022-04-18 21:44:34 UTC 10326175 http://rdf.ncbi.nlm.nih.gov/pubmed/10326175 0 10 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/160 160 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_200 female "" "" "" Caucasian 200 Frontal face 2022-04-18 21:44:34 UTC 10326175 http://rdf.ncbi.nlm.nih.gov/pubmed/10326175 0 10 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/162 162 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_201 unknown "" "" "" - 201 Frontal face 2022-02-25 16:08:48 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 0 1 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/162 162 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_201 unknown "" "" "" - 201 Frontal face 2022-02-25 16:08:48 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 0 1 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/162 162 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_202 unknown "" "" "" - 202 Frontal face 2022-02-25 16:08:52 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 0 1 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/162 162 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_202 unknown "" "" "" - 202 Frontal face 2022-02-25 16:08:52 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 0 1 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15 15 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_21 female "" "" "" African-American 21 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15 15 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_21 female "" "" "" African-American 21 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/17 17 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_23 female "" "" "" African-American 23 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 7 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/17 17 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_23 female "" "" "" African-American 23 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 7 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/163 163 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_203 female "" "" "" African 203 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (infant) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/163 163 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_203 female "" "" "" African 203 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (infant) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/164 164 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_204 male "" "" "" Caucasian 204 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (infant) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/164 164 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_204 male "" "" "" Caucasian 204 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (infant) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/164 164 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_205 male "" "" "" Caucasian 205 Profile 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (infant) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/164 164 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_205 male "" "" "" Caucasian 205 Profile 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (infant) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/165 165 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_206 female "" "" "" - 206 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adult) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/165 165 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_206 female "" "" "" - 206 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adult) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/166 166 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_207 female "" "" "" - 207 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/166 166 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_207 female "" "" "" - 207 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/166 166 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_208 female "" "" "" - 208 Profile 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/166 166 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_208 female "" "" "" - 208 Profile 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/167 167 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_209 male "" "" "" Caucasian 209 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adolescent) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/167 167 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_209 male "" "" "" Caucasian 209 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adolescent) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/168 168 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_210 female "" "" "" - 210 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/168 168 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_210 female "" "" "" - 210 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/169 169 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_211 male "" "" "" Caucasian 211 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adolescent) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/169 169 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_211 male "" "" "" Caucasian 211 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adolescent) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/170 170 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_212 male "" "" "" Caucasian 212 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adult) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/170 170 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_212 male "" "" "" Caucasian 212 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adult) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/171 171 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_213 male "" "" "" Caucasian 213 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/171 171 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_213 male "" "" "" Caucasian 213 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/172 172 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_214 female "" "" "" - 214 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adult) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/172 172 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_214 female "" "" "" - 214 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (adult) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/173 173 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_215 female "" "" "" - 215 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/173 173 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_215 female "" "" "" - 215 Frontal face 2022-04-18 21:44:34 UTC 11305686 http://rdf.ncbi.nlm.nih.gov/pubmed/11305686 "" "" (child) NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13212 13212 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23374 male "" "" Unknown "" 23374 Frontal face 2025-01-12 17:24:30 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 4 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13212 13212 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23374 male "" "" Unknown "" 23374 Frontal face 2025-01-12 17:24:30 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 4 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13212 13212 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23375 male "" "" Unknown "" 23375 Profile 2025-01-12 17:24:41 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 4 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13212 13212 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23375 male "" "" Unknown "" 23375 Profile 2025-01-12 17:24:41 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 4 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13212 13212 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23377 male "" "" Unknown "" 23377 Profile 2025-01-12 17:24:56 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 4 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13212 13212 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23377 male "" "" Unknown "" 23377 Profile 2025-01-12 17:24:56 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 4 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13213 13213 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23386 female "" "" Unknown "" 23386 Frontal face 2025-01-12 18:06:22 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 10 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13213 13213 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23386 female "" "" Unknown "" 23386 Frontal face 2025-01-12 18:06:22 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 10 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13213 13213 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23387 female "" "" Unknown "" 23387 Profile 2025-01-12 18:06:29 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 10 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13213 13213 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23387 female "" "" Unknown "" 23387 Profile 2025-01-12 18:06:29 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 10 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13213 13213 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23388 female "" "" Unknown "" 23388 Profile 2025-01-12 18:06:43 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 10 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/13213 13213 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_23388 female "" "" Unknown "" 23388 Profile 2025-01-12 18:06:43 UTC 166525 http://rdf.ncbi.nlm.nih.gov/pubmed/166525 10 0 "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13316 13316 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_23620 unknown "" "" European "" 23620 Others 2025-01-22 15:16:51 UTC "" "" "" "" ultrasound, trimester 2, 22 weeks NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13317 13317 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_23621 unknown "" "" American - Latin/Hispanic "" 23621 Others 2025-01-22 15:23:18 UTC "" "" "" "" ultrasound, trimester 2, 16 - 24 weeks NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13318 13318 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_23638 unknown "" "" "" "" 23638 Others 2025-01-23 15:47:11 UTC "" "" "" "" Ultrasound, first trimester, between 11 and 13+6 weeks NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1829 1829 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2446 male LMNA http://identifiers.org/ncbigene/4000 European - Southern Southern Italy 2446 Frontal face 2023-11-22 15:46:48 UTC 17469202 http://rdf.ncbi.nlm.nih.gov/pubmed/17469202 0 0 3 days old NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1829 1829 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2446 male LMNA http://identifiers.org/ncbigene/4000 European - Southern Southern Italy 2446 Frontal face 2023-11-22 15:46:48 UTC 17469202 http://rdf.ncbi.nlm.nih.gov/pubmed/17469202 0 0 3 days old NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1829 1829 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2447 male LMNA http://identifiers.org/ncbigene/4000 European - Southern Southern Italy 2447 Frontal face 2023-11-22 15:46:56 UTC 17469202 http://rdf.ncbi.nlm.nih.gov/pubmed/17469202 0 0 3 days old NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1829 1829 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2447 male LMNA http://identifiers.org/ncbigene/4000 European - Southern Southern Italy 2447 Frontal face 2023-11-22 15:46:56 UTC 17469202 http://rdf.ncbi.nlm.nih.gov/pubmed/17469202 0 0 3 days old NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/1779 1779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_16798 male CHD7 http://identifiers.org/ncbigene/55636 European French 16798 Profile 2024-01-18 19:21:55 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 15 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/1779 1779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_16798 male CHD7 http://identifiers.org/ncbigene/55636 European French 16798 Profile 2024-01-18 19:21:55 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 15 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1782 1782 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_16959 male DHCR7 http://identifiers.org/ncbigene/1717 Arab Saudi 16959 Limbs 2024-01-29 16:44:39 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 3 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1782 1782 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_16959 male DHCR7 http://identifiers.org/ncbigene/1717 Arab Saudi 16959 Limbs 2024-01-29 16:44:39 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 3 6 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/1779 1779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_2340 male CHD7 http://identifiers.org/ncbigene/55636 European French 2340 Frontal face 2024-01-18 19:21:48 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 15 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/1779 1779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_2340 male CHD7 http://identifiers.org/ncbigene/55636 European French 2340 Frontal face 2024-01-18 19:21:48 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 15 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1782 1782 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2343 male DHCR7 http://identifiers.org/ncbigene/1717 Arab Saudi 2343 Frontal face 2023-11-13 17:34:24 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 3 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1782 1782 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2343 male DHCR7 http://identifiers.org/ncbigene/1717 Arab Saudi 2343 Frontal face 2023-11-13 17:34:24 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 3 6 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/1786 1786 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_2350 male IDUA http://identifiers.org/ncbigene/3425 American - Latin/Hispanic, Caucasian Brazil 2350 Frontal face 2023-11-14 17:17:09 UTC 25256405 http://rdf.ncbi.nlm.nih.gov/pubmed/25256405 5 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/1786 1786 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_2351 male IDUA http://identifiers.org/ncbigene/3425 American - Latin/Hispanic, Caucasian Brazil 2351 Hand X-ray 2021-04-14 12:11:44 UTC 25256405 http://rdf.ncbi.nlm.nih.gov/pubmed/25256405 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/1786 1786 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_2352 male IDUA http://identifiers.org/ncbigene/3425 American - Latin/Hispanic, Caucasian Brazil 2352 Others 2021-04-14 12:11:44 UTC 25256405 http://rdf.ncbi.nlm.nih.gov/pubmed/25256405 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/1786 1786 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_2353 male IDUA http://identifiers.org/ncbigene/3425 American - Latin/Hispanic, Caucasian Brazil 2353 Frontal face 2023-11-14 17:17:34 UTC 25256405 http://rdf.ncbi.nlm.nih.gov/pubmed/25256405 9 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/1786 1786 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_2354 male IDUA http://identifiers.org/ncbigene/3425 American - 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BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2382 male NBN http://identifiers.org/ncbigene/4683 European - Eastern, European - Southern Bosnia 2382 Profile 2023-11-15 08:13:03 UTC 10852373 http://rdf.ncbi.nlm.nih.gov/pubmed/10852373 5 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1796 1796 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2388 male NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkey 2388 Profile 2023-11-18 12:46:55 UTC 12123493 http://rdf.ncbi.nlm.nih.gov/pubmed/12123493 5 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1796 1796 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2388 male NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkey 2388 Profile 2023-11-18 12:46:55 UTC 12123493 http://rdf.ncbi.nlm.nih.gov/pubmed/12123493 5 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1796 1796 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2389 male NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkey 2389 Frontal face 2023-11-18 12:47:01 UTC 12123493 http://rdf.ncbi.nlm.nih.gov/pubmed/12123493 5 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1796 1796 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2389 male NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkey 2389 Frontal face 2023-11-18 12:47:01 UTC 12123493 http://rdf.ncbi.nlm.nih.gov/pubmed/12123493 5 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1798 1798 SOTOS SYNDROME, https://db.gestaltmatcher.org/patients/image_2392 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 2392 Frontal face 2023-11-18 13:10:34 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 0 4 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1798 1798 SOTOS SYNDROME, https://db.gestaltmatcher.org/patients/image_2392 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 2392 Frontal face 2023-11-18 13:10:34 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 0 4 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1798 1798 SOTOS SYNDROME, https://db.gestaltmatcher.org/patients/image_2393 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 2393 Frontal face 2023-11-18 13:10:53 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 0 4 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1798 1798 SOTOS SYNDROME, https://db.gestaltmatcher.org/patients/image_2393 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 2393 Frontal face 2023-11-18 13:10:53 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 0 4 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1806 1806 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2405 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian Indian 2405 Profile 2023-11-19 16:47:03 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 17 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1806 1806 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2405 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian Indian 2405 Profile 2023-11-19 16:47:03 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 17 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1806 1806 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2406 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian Indian 2406 Others 2023-11-19 16:47:15 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 17 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1806 1806 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2406 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian Indian 2406 Others 2023-11-19 16:47:15 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 17 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1806 1806 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2407 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian Indian 2407 Others 2023-11-19 16:47:20 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 17 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1806 1806 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2407 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian Indian 2407 Others 2023-11-19 16:47:20 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 17 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1806 1806 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2408 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian Indian 2408 Frontal face 2023-11-19 16:47:26 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 17 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1806 1806 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2408 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian Indian 2408 Frontal face 2023-11-19 16:47:26 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 17 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1807 1807 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2409 female NBN 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SYNDROME https://db.gestaltmatcher.org/patients/image_2465 female NSD1 http://identifiers.org/ncbigene/64324 European German 2465 Profile 2023-03-08 16:49:53 UTC 19545651 http://rdf.ncbi.nlm.nih.gov/pubmed/19545651 36 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1841 1841 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2465 female NSD1 http://identifiers.org/ncbigene/64324 European German 2465 Profile 2023-03-08 16:49:53 UTC 19545651 http://rdf.ncbi.nlm.nih.gov/pubmed/19545651 36 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1841 1841 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2466 female NSD1 http://identifiers.org/ncbigene/64324 European German 2466 Frontal face 2023-03-08 16:49:42 UTC 19545651 http://rdf.ncbi.nlm.nih.gov/pubmed/19545651 36 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1841 1841 SOTOS SYNDROME 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HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2531 unknown LMNA http://identifiers.org/ncbigene/4000 African - North Morocco 2531 Profile 2021-04-14 12:11:45 UTC 22991222 http://rdf.ncbi.nlm.nih.gov/pubmed/22991222 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1870 1870 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2531 unknown LMNA http://identifiers.org/ncbigene/4000 African - North Morocco 2531 Profile 2021-04-14 12:11:45 UTC 22991222 http://rdf.ncbi.nlm.nih.gov/pubmed/22991222 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1870 1870 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2532 unknown LMNA http://identifiers.org/ncbigene/4000 African - North Morocco 2532 Others 2021-04-14 12:11:45 UTC 22991222 http://rdf.ncbi.nlm.nih.gov/pubmed/22991222 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1870 1870 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2532 unknown LMNA http://identifiers.org/ncbigene/4000 African - North Morocco 2532 Others 2021-04-14 12:11:45 UTC 22991222 http://rdf.ncbi.nlm.nih.gov/pubmed/22991222 0 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1873 1873 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_2536 female IDS http://identifiers.org/ncbigene/3423 American - Latin/Hispanic Mexican 2536 Profile 2021-04-14 12:11:45 UTC 23232253 http://rdf.ncbi.nlm.nih.gov/pubmed/23232253 0 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1873 1873 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_2536 female IDS http://identifiers.org/ncbigene/3423 American - Latin/Hispanic Mexican 2536 Profile 2021-04-14 12:11:45 UTC 23232253 http://rdf.ncbi.nlm.nih.gov/pubmed/23232253 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1885 1885 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2561 female NBN http://identifiers.org/ncbigene/4683 European Slavic 2561 Limbs 2021-04-14 12:11:45 UTC 24044622 http://rdf.ncbi.nlm.nih.gov/pubmed/24044622 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1885 1885 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2561 female NBN http://identifiers.org/ncbigene/4683 European Slavic 2561 Limbs 2021-04-14 12:11:45 UTC 24044622 http://rdf.ncbi.nlm.nih.gov/pubmed/24044622 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1885 1885 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2562 female NBN http://identifiers.org/ncbigene/4683 European Slavic 2562 Frontal face 2024-08-04 15:04:48 UTC 24044622 http://rdf.ncbi.nlm.nih.gov/pubmed/24044622 12 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1885 1885 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2562 female NBN http://identifiers.org/ncbigene/4683 European Slavic 2562 Frontal face 2024-08-04 15:04:48 UTC 24044622 http://rdf.ncbi.nlm.nih.gov/pubmed/24044622 12 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1891 1891 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2569 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Chinese 2569 Profile 2021-04-14 12:11:45 UTC 24861648 http://rdf.ncbi.nlm.nih.gov/pubmed/24861648 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1891 1891 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2569 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Chinese 2569 Profile 2021-04-14 12:11:45 UTC 24861648 http://rdf.ncbi.nlm.nih.gov/pubmed/24861648 0 0 "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/1898 1898 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_2588 unknown ERCC6 http://identifiers.org/ncbigene/2074 Asian - East Chinese 2588 Profile 2021-04-14 12:11:45 UTC 25463447 http://rdf.ncbi.nlm.nih.gov/pubmed/25463447 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1902 1902 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2592 male LMNA http://identifiers.org/ncbigene/4000 European Finnish 2592 Profile 2021-04-14 12:11:45 UTC 25820511 http://rdf.ncbi.nlm.nih.gov/pubmed/25820511 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1902 1902 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2592 male LMNA http://identifiers.org/ncbigene/4000 European Finnish 2592 Profile 2021-04-14 12:11:45 UTC 25820511 http://rdf.ncbi.nlm.nih.gov/pubmed/25820511 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1902 1902 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2594 male LMNA http://identifiers.org/ncbigene/4000 European Finnish 2594 Others 2021-04-14 12:11:45 UTC 25820511 http://rdf.ncbi.nlm.nih.gov/pubmed/25820511 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1902 1902 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2594 male LMNA http://identifiers.org/ncbigene/4000 European Finnish 2594 Others 2021-04-14 12:11:45 UTC 25820511 http://rdf.ncbi.nlm.nih.gov/pubmed/25820511 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1910 1910 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2606 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Korean 2606 Others 2021-04-14 12:11:45 UTC 26122271 http://rdf.ncbi.nlm.nih.gov/pubmed/26122271 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1910 1910 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2606 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Korean 2606 Others 2021-04-14 12:11:45 UTC 26122271 http://rdf.ncbi.nlm.nih.gov/pubmed/26122271 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/1916 1916 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2621 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - East Chinese 2621 Profile 2021-04-14 12:11:45 UTC 26515231 http://rdf.ncbi.nlm.nih.gov/pubmed/26515231 0 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1923 1923 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2639 male DHCR7 http://identifiers.org/ncbigene/1717 American - Latin/Hispanic, European italian/cuban 2639 Profile 2021-04-14 12:11:45 UTC 26969503 http://rdf.ncbi.nlm.nih.gov/pubmed/26969503 0 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1923 1923 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2639 male DHCR7 http://identifiers.org/ncbigene/1717 American - Latin/Hispanic, European italian/cuban 2639 Profile 2021-04-14 12:11:45 UTC 26969503 http://rdf.ncbi.nlm.nih.gov/pubmed/26969503 0 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1923 1923 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2640 male DHCR7 http://identifiers.org/ncbigene/1717 American - Latin/Hispanic, European italian/cuban 2640 Limbs 2021-04-14 12:11:45 UTC 26969503 http://rdf.ncbi.nlm.nih.gov/pubmed/26969503 0 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1923 1923 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2640 male DHCR7 http://identifiers.org/ncbigene/1717 American - Latin/Hispanic, European italian/cuban 2640 Limbs 2021-04-14 12:11:45 UTC 26969503 http://rdf.ncbi.nlm.nih.gov/pubmed/26969503 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/1993 1993 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_2730 male ASXL3 http://identifiers.org/ncbigene/80816 Asian - West/Middle Eastern Turkish 2730 Frontal face 2022-02-25 18:04:05 UTC 27901041 http://rdf.ncbi.nlm.nih.gov/pubmed/27901041 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/1994 1994 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_2731 male ASXL3 http://identifiers.org/ncbigene/80816 Asian - West/Middle Eastern, European Turkish/Italian 2731 Frontal face 2022-02-25 18:04:06 UTC 27901041 http://rdf.ncbi.nlm.nih.gov/pubmed/27901041 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/1995 1995 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_2732 female ASXL3 http://identifiers.org/ncbigene/80816 Asian, European Russian 2732 Frontal face 2022-02-25 18:04:09 UTC 27901041 http://rdf.ncbi.nlm.nih.gov/pubmed/27901041 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/1992 1992 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_2734 male ASXL3 http://identifiers.org/ncbigene/80816 European Germany 2734 Frontal face 2022-02-25 18:04:12 UTC 27901041 http://rdf.ncbi.nlm.nih.gov/pubmed/27901041 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1840 1840 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2463 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Chinese 2463 Frontal face 2022-04-18 21:44:34 UTC 19432833 http://rdf.ncbi.nlm.nih.gov/pubmed/19432833 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1840 1840 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2463 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Chinese 2463 Frontal face 2022-04-18 21:44:34 UTC 19432833 http://rdf.ncbi.nlm.nih.gov/pubmed/19432833 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1859 1859 MUCOPOLYSACCHARIDOSIS, TYPE II, https://db.gestaltmatcher.org/patients/image_2498 male IDS http://identifiers.org/ncbigene/3423 European - Eastern Polish 2498 Frontal face 2022-04-18 21:44:34 UTC 21672014 http://rdf.ncbi.nlm.nih.gov/pubmed/21672014 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1859 1859 MUCOPOLYSACCHARIDOSIS, TYPE II, https://db.gestaltmatcher.org/patients/image_2498 male IDS http://identifiers.org/ncbigene/3423 European - Eastern Polish 2498 Frontal face 2022-04-18 21:44:34 UTC 21672014 http://rdf.ncbi.nlm.nih.gov/pubmed/21672014 "" "" "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1870 1870 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2530 unknown LMNA http://identifiers.org/ncbigene/4000 African - North Morocco 2530 Frontal face 2022-04-18 21:44:34 UTC 22991222 http://rdf.ncbi.nlm.nih.gov/pubmed/22991222 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1870 1870 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2530 unknown LMNA http://identifiers.org/ncbigene/4000 African - North Morocco 2530 Frontal face 2022-04-18 21:44:34 UTC 22991222 http://rdf.ncbi.nlm.nih.gov/pubmed/22991222 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/1871 1871 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_2533 female CDKN1C http://identifiers.org/ncbigene/1028 Asian - South-East Thai 2533 Frontal face 2022-04-18 21:44:34 UTC 23197429 http://rdf.ncbi.nlm.nih.gov/pubmed/23197429 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/1871 1871 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_2534 female CDKN1C http://identifiers.org/ncbigene/1028 Asian - South-East Thai 2534 Frontal face 2022-04-18 21:44:34 UTC 23197429 http://rdf.ncbi.nlm.nih.gov/pubmed/23197429 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1873 1873 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_2537 female IDS http://identifiers.org/ncbigene/3423 American - Latin/Hispanic Mexican 2537 Frontal face 2022-04-18 21:44:34 UTC 23232253 http://rdf.ncbi.nlm.nih.gov/pubmed/23232253 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1873 1873 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_2537 female IDS http://identifiers.org/ncbigene/3423 American - Latin/Hispanic Mexican 2537 Frontal face 2022-04-18 21:44:34 UTC 23232253 http://rdf.ncbi.nlm.nih.gov/pubmed/23232253 "" "" "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/1876 1876 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_2542 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian - South-East Indonesia 2542 Frontal face 2022-04-18 21:44:34 UTC 23546041 http://rdf.ncbi.nlm.nih.gov/pubmed/23546041 "" "" "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/1876 1876 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_2542 unknown FGFR2 http://identifiers.org/ncbigene/2263 Asian - South-East Indonesia 2542 Frontal face 2022-04-18 21:44:34 UTC 23546041 http://rdf.ncbi.nlm.nih.gov/pubmed/23546041 "" "" "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/1878 1878 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_2544 unknown GNPTAB http://identifiers.org/ncbigene/79158 Asian - East Chinese 2544 Frontal face 2022-04-18 21:44:34 UTC 23773965 http://rdf.ncbi.nlm.nih.gov/pubmed/23773965 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/1878 1878 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_2544 unknown GNPTAB http://identifiers.org/ncbigene/79158 Asian - East Chinese 2544 Frontal face 2022-04-18 21:44:34 UTC 23773965 http://rdf.ncbi.nlm.nih.gov/pubmed/23773965 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1891 1891 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2570 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Chinese 2570 Frontal face 2022-04-18 21:44:34 UTC 24861648 http://rdf.ncbi.nlm.nih.gov/pubmed/24861648 "" "" "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1891 1891 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2570 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Chinese 2570 Frontal face 2022-04-18 21:44:34 UTC 24861648 http://rdf.ncbi.nlm.nih.gov/pubmed/24861648 "" "" "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1891 1891 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2571 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Chinese 2571 Frontal face 2022-04-18 21:44:34 UTC 24861648 http://rdf.ncbi.nlm.nih.gov/pubmed/24861648 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1891 1891 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2571 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Chinese 2571 Frontal face 2022-04-18 21:44:34 UTC 24861648 http://rdf.ncbi.nlm.nih.gov/pubmed/24861648 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/1898 1898 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_2587 unknown ERCC6 http://identifiers.org/ncbigene/2074 Asian - East Chinese 2587 Frontal face 2022-04-18 21:44:34 UTC 25463447 http://rdf.ncbi.nlm.nih.gov/pubmed/25463447 "" "" "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/1900 1900 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_2590 male FGFR3 http://identifiers.org/ncbigene/2261 European Italian 2590 Frontal face 2022-04-18 21:44:34 UTC 25691418 http://rdf.ncbi.nlm.nih.gov/pubmed/25691418 "" "" "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/1900 1900 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_2590 male FGFR3 http://identifiers.org/ncbigene/2261 European Italian 2590 Frontal face 2022-04-18 21:44:34 UTC 25691418 http://rdf.ncbi.nlm.nih.gov/pubmed/25691418 "" "" "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1902 1902 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2593 male LMNA http://identifiers.org/ncbigene/4000 European Finnish 2593 Frontal face 2022-04-18 21:44:34 UTC 25820511 http://rdf.ncbi.nlm.nih.gov/pubmed/25820511 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1902 1902 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2593 male LMNA http://identifiers.org/ncbigene/4000 European Finnish 2593 Frontal face 2022-04-18 21:44:34 UTC 25820511 http://rdf.ncbi.nlm.nih.gov/pubmed/25820511 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1910 1910 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2607 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Korean 2607 Frontal face 2022-04-18 21:44:34 UTC 26122271 http://rdf.ncbi.nlm.nih.gov/pubmed/26122271 "" "" "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1910 1910 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2607 female LMNA http://identifiers.org/ncbigene/4000 Asian - East Korean 2607 Frontal face 2022-04-18 21:44:34 UTC 26122271 http://rdf.ncbi.nlm.nih.gov/pubmed/26122271 "" "" "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/1916 1916 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2620 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - East Chinese 2620 Frontal face 2022-04-18 21:44:34 UTC 26515231 http://rdf.ncbi.nlm.nih.gov/pubmed/26515231 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1923 1923 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2641 male DHCR7 http://identifiers.org/ncbigene/1717 American - Latin/Hispanic, European italian/cuban 2641 Frontal face 2022-04-18 21:44:34 UTC 26969503 http://rdf.ncbi.nlm.nih.gov/pubmed/26969503 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1923 1923 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2641 male DHCR7 http://identifiers.org/ncbigene/1717 American - Latin/Hispanic, European italian/cuban 2641 Frontal face 2022-04-18 21:44:34 UTC 26969503 http://rdf.ncbi.nlm.nih.gov/pubmed/26969503 "" "" "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/1938 1938 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_2674 male TWIST1 http://identifiers.org/ncbigene/7291 American - Latin/Hispanic Mexican 2674 Frontal face 2022-04-18 21:44:34 UTC 8988166 http://rdf.ncbi.nlm.nih.gov/pubmed/8988166 "" "" "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/1938 1938 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_2675 male TWIST1 http://identifiers.org/ncbigene/7291 American - Latin/Hispanic Mexican 2675 Frontal face 2022-04-18 21:44:34 UTC 8988166 http://rdf.ncbi.nlm.nih.gov/pubmed/8988166 "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/186 186 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_228 male LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 228 Frontal face 2022-04-18 21:44:34 UTC 23167938 http://rdf.ncbi.nlm.nih.gov/pubmed/23167938 40 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/186 186 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_228 male LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 228 Frontal face 2022-04-18 21:44:34 UTC 23167938 http://rdf.ncbi.nlm.nih.gov/pubmed/23167938 40 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/186 186 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_228 male ELN http://identifiers.org/ncbigene/2006 "" Caucasian 228 Frontal face 2022-04-18 21:44:34 UTC 23167938 http://rdf.ncbi.nlm.nih.gov/pubmed/23167938 40 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/186 186 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_228 male ELN http://identifiers.org/ncbigene/2006 "" Caucasian 228 Frontal face 2022-04-18 21:44:34 UTC 23167938 http://rdf.ncbi.nlm.nih.gov/pubmed/23167938 40 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/195 195 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_239 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 239 Frontal face 2022-04-18 21:44:34 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 13 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/195 195 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_239 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 239 Frontal face 2022-04-18 21:44:34 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/195 195 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_239 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 239 Frontal face 2022-04-18 21:44:34 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 13 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/195 195 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_239 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 239 Frontal face 2022-04-18 21:44:34 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 13 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_240 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 240 Frontal face 2022-02-25 16:09:59 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 14 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_240 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 240 Frontal face 2022-02-25 16:09:59 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 14 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_240 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 240 Frontal face 2022-02-25 16:09:59 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 14 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_240 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 240 Frontal face 2022-02-25 16:09:59 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 14 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_241 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 241 Frontal face 2022-02-25 16:10:00 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 18 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_241 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 241 Frontal face 2022-02-25 16:10:00 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 18 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_241 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 241 Frontal face 2022-02-25 16:10:00 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 18 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_241 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 241 Frontal face 2022-02-25 16:10:00 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 18 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_242 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 242 Frontal face 2022-02-25 16:10:02 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 24 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_242 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 242 Frontal face 2022-02-25 16:10:02 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 24 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_242 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 242 Frontal face 2022-02-25 16:10:02 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 24 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_242 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 242 Frontal face 2022-02-25 16:10:02 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 24 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_243 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 243 Frontal face 2022-02-25 16:10:03 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 40 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_243 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 243 Frontal face 2022-02-25 16:10:03 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 40 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_243 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 243 Frontal face 2022-02-25 16:10:03 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 40 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/196 196 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_243 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 243 Frontal face 2022-02-25 16:10:03 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 40 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/197 197 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_244 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 244 Frontal face 2022-04-18 21:44:34 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 0 8 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/197 197 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_244 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 244 Frontal face 2022-04-18 21:44:34 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 0 8 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/197 197 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_244 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 244 Frontal face 2022-04-18 21:44:34 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 0 8 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/197 197 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_244 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 244 Frontal face 2022-04-18 21:44:34 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 0 8 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/1928 1928 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_2651 female FGFR2 http://identifiers.org/ncbigene/2263 "" Chinese 2651 Frontal face 2022-04-18 21:44:34 UTC 27430617 http://rdf.ncbi.nlm.nih.gov/pubmed/27430617 "" "" "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/1928 1928 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_2651 female FGFR2 http://identifiers.org/ncbigene/2263 "" Chinese 2651 Frontal face 2022-04-18 21:44:34 UTC 27430617 http://rdf.ncbi.nlm.nih.gov/pubmed/27430617 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22685 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22685 MRI 2024-11-30 09:23:32 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 0 10 T2w, coronal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22685 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22685 MRI 2024-11-30 09:23:32 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 0 10 T2w, coronal NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22686 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22686 MRI 2024-11-30 09:23:54 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 0 10 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22686 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22686 MRI 2024-11-30 09:23:54 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 0 10 T2w, axial NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/2127 2127 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_14761 male RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 14761 Limbs 2023-06-07 15:56:51 UTC 28039508 http://rdf.ncbi.nlm.nih.gov/pubmed/28039508 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2142 2142 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_14762 female KMT2A http://identifiers.org/ncbigene/4297 Asian "" 14762 Frontal face 2023-06-07 15:57:55 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1764 1764 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_16785 male FLNB http://identifiers.org/ncbigene/2317 Arab "" 16785 Others 2024-01-15 16:44:44 UTC 18322662 http://rdf.ncbi.nlm.nih.gov/pubmed/18322662 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1764 1764 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_16786 male FLNB http://identifiers.org/ncbigene/2317 Arab "" 16786 Others 2024-01-15 16:45:08 UTC 18322662 http://rdf.ncbi.nlm.nih.gov/pubmed/18322662 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1764 1764 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_16787 male FLNB http://identifiers.org/ncbigene/2317 Arab "" 16787 Others 2024-01-15 16:45:21 UTC 18322662 http://rdf.ncbi.nlm.nih.gov/pubmed/18322662 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1764 1764 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_2309 male FLNB http://identifiers.org/ncbigene/2317 Arab "" 2309 Limbs 2021-04-14 12:11:44 UTC 18322662 http://rdf.ncbi.nlm.nih.gov/pubmed/18322662 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1802 1802 SOTOS SYNDROME, https://db.gestaltmatcher.org/patients/image_2400 male NSD1 http://identifiers.org/ncbigene/64324 European "" 2400 Frontal face 2023-11-19 14:42:59 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 1 3 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1802 1802 SOTOS SYNDROME, https://db.gestaltmatcher.org/patients/image_2400 male NSD1 http://identifiers.org/ncbigene/64324 European "" 2400 Frontal face 2023-11-19 14:42:59 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 1 3 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1808 1808 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2410 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 2410 Frontal face 2023-11-19 17:03:25 UTC 15474156 http://rdf.ncbi.nlm.nih.gov/pubmed/15474156 7 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1808 1808 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2410 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 2410 Frontal face 2023-11-19 17:03:25 UTC 15474156 http://rdf.ncbi.nlm.nih.gov/pubmed/15474156 7 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1808 1808 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2411 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 2411 Profile 2023-11-19 17:03:31 UTC 15474156 http://rdf.ncbi.nlm.nih.gov/pubmed/15474156 7 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/1808 1808 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_2411 female NBN http://identifiers.org/ncbigene/4683 Caucasian "" 2411 Profile 2023-11-19 17:03:31 UTC 15474156 http://rdf.ncbi.nlm.nih.gov/pubmed/15474156 7 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1809 1809 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2412 male RAI1 http://identifiers.org/ncbigene/10743 European "" 2412 Frontal face 2023-03-08 16:09:16 UTC 15788730 http://rdf.ncbi.nlm.nih.gov/pubmed/15788730 14 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1809 1809 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2412 male RAI1 http://identifiers.org/ncbigene/10743 European "" 2412 Frontal face 2023-03-08 16:09:16 UTC 15788730 http://rdf.ncbi.nlm.nih.gov/pubmed/15788730 14 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1831 1831 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_2451 male IDS http://identifiers.org/ncbigene/3423 African "" 2451 Frontal face 2023-11-23 09:59:26 UTC 17616540 http://rdf.ncbi.nlm.nih.gov/pubmed/17616540 9 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1831 1831 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_2451 male IDS http://identifiers.org/ncbigene/3423 African "" 2451 Frontal face 2023-11-23 09:59:26 UTC 17616540 http://rdf.ncbi.nlm.nih.gov/pubmed/17616540 9 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2600 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2600 Others 2021-04-14 12:11:45 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2600 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2600 Others 2021-04-14 12:11:45 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2602 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2602 MRI 2021-04-14 12:11:45 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2602 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2602 MRI 2021-04-14 12:11:45 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2630 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2630 Limbs 2021-04-14 12:11:45 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2630 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2630 Limbs 2021-04-14 12:11:45 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2632 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2632 Profile 2021-04-14 12:11:45 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2632 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2632 Profile 2021-04-14 12:11:45 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/2124 2124 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2890 male RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 2890 Frontal face 2022-02-25 18:08:12 UTC 17372760 http://rdf.ncbi.nlm.nih.gov/pubmed/17372760 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/2125 2125 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2892 male RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 2892 Frontal face 2022-02-25 18:08:16 UTC 29367366 http://rdf.ncbi.nlm.nih.gov/pubmed/29367366 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/2126 2126 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2899 unknown RECQL4 http://identifiers.org/ncbigene/9401 Asian "" 2899 Frontal face 2022-02-25 18:08:30 UTC 29462647 http://rdf.ncbi.nlm.nih.gov/pubmed/29462647 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/2127 2127 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2900 male RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 2900 Frontal face 2023-03-10 10:25:45 UTC 28039508 http://rdf.ncbi.nlm.nih.gov/pubmed/28039508 34 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2142 2142 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2923 female KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2923 Frontal face 2022-02-25 18:09:04 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 3 3 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2143 2143 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2924 male KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2924 Frontal face 2022-02-25 18:09:07 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 3 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2144 2144 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2925 male KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2925 Frontal face 2022-02-25 18:09:08 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 6 7 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2145 2145 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2926 female KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2926 Frontal face 2022-02-25 18:09:11 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 5 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2146 2146 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2927 male KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2927 Frontal face 2022-02-25 18:09:12 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 5 7 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2147 2147 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2928 female KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2928 Frontal face 2022-02-25 18:09:14 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 8 10 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2149 2149 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2929 female KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2929 Frontal face 2022-02-25 18:09:15 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 9 10 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2150 2150 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2930 male KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2930 Frontal face 2022-02-25 18:09:18 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2150 2150 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2931 male KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2931 Profile 2021-04-14 12:11:46 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2151 2151 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2932 female KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2932 Frontal face 2022-02-25 18:09:19 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2152 2152 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2933 male KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2933 Frontal face 2022-02-25 18:09:22 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2153 2153 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2934 male KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2934 Frontal face 2022-02-25 18:09:23 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2153 2153 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2935 male KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2935 Profile 2021-04-14 12:11:46 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 12 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2154 2154 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2936 female KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2936 Frontal face 2022-02-25 18:09:25 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2155 2155 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_2937 female KMT2A http://identifiers.org/ncbigene/4297 Asian "" 2937 Frontal face 2022-02-25 18:09:27 UTC 30305169 http://rdf.ncbi.nlm.nih.gov/pubmed/30305169 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2186 2186 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_2985 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 2985 Frontal face 2022-02-25 18:10:33 UTC 29599419 http://rdf.ncbi.nlm.nih.gov/pubmed/29599419 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2187 2187 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_2986 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 2986 Frontal face 2022-02-25 18:10:36 UTC 29599419 http://rdf.ncbi.nlm.nih.gov/pubmed/29599419 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2188 2188 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_2987 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 2987 Frontal face 2022-02-25 18:10:37 UTC 29599419 http://rdf.ncbi.nlm.nih.gov/pubmed/29599419 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2189 2189 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_2988 unknown MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 2988 Frontal face 2022-02-25 18:10:40 UTC 29599419 http://rdf.ncbi.nlm.nih.gov/pubmed/29599419 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2190 2190 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_2989 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 2989 Frontal face 2022-02-25 18:10:41 UTC 29599419 http://rdf.ncbi.nlm.nih.gov/pubmed/29599419 0 0 "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/2199 2199 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_2999 unknown FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 2999 Frontal face 2022-02-25 18:10:59 UTC 10067911 http://rdf.ncbi.nlm.nih.gov/pubmed/10067911 0 0 "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/2199 2199 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_2999 unknown FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 2999 Frontal face 2022-02-25 18:10:59 UTC 10067911 http://rdf.ncbi.nlm.nih.gov/pubmed/10067911 0 0 "" NANDO:1201117 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/2202 2202 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_3002 female KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 3002 Frontal face 2022-02-25 18:11:03 UTC 12148092 http://rdf.ncbi.nlm.nih.gov/pubmed/12148092 0 0 "" NANDO:2201516 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/2202 2202 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_3002 female KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 3002 Frontal face 2022-02-25 18:11:03 UTC 12148092 http://rdf.ncbi.nlm.nih.gov/pubmed/12148092 0 0 "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/2204 2204 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_3003 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 3003 Frontal face 2022-02-25 18:11:06 UTC 9973282 http://rdf.ncbi.nlm.nih.gov/pubmed/9973282 0 0 "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/2204 2204 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_3003 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 3003 Frontal face 2022-02-25 18:11:06 UTC 9973282 http://rdf.ncbi.nlm.nih.gov/pubmed/9973282 0 0 "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/2203 2203 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_3004 male FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 3004 Frontal face 2022-02-25 18:11:07 UTC 9973282 http://rdf.ncbi.nlm.nih.gov/pubmed/9973282 0 0 "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/2203 2203 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_3004 male FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 3004 Frontal face 2022-02-25 18:11:07 UTC 9973282 http://rdf.ncbi.nlm.nih.gov/pubmed/9973282 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/2244 2244 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_3045 male ASXL3 http://identifiers.org/ncbigene/80816 Asian "" 3045 Frontal face 2022-02-25 18:12:06 UTC 33242595 http://rdf.ncbi.nlm.nih.gov/pubmed/33242595 1 5 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/2241 2241 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_3046 male ASXL3 http://identifiers.org/ncbigene/80816 Asian "" 3046 Frontal face 2022-02-25 18:12:09 UTC 33242595 http://rdf.ncbi.nlm.nih.gov/pubmed/33242595 3 5 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/2242 2242 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_3047 female ASXL3 http://identifiers.org/ncbigene/80816 Asian "" 3047 Frontal face 2022-02-25 18:12:10 UTC 33242595 http://rdf.ncbi.nlm.nih.gov/pubmed/33242595 1 1 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/2243 2243 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_3048 female ASXL3 http://identifiers.org/ncbigene/80816 Asian - South/Indian "" 3048 Frontal face 2022-02-25 18:12:13 UTC 33242595 http://rdf.ncbi.nlm.nih.gov/pubmed/33242595 23 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1764 1764 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_2310 male FLNB http://identifiers.org/ncbigene/2317 Arab "" 2310 Frontal face 2022-04-18 21:44:34 UTC 18322662 http://rdf.ncbi.nlm.nih.gov/pubmed/18322662 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1817 1817 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2423 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2423 Frontal face 2022-04-18 21:44:34 UTC 16088920 http://rdf.ncbi.nlm.nih.gov/pubmed/16088920 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1817 1817 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2423 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2423 Frontal face 2022-04-18 21:44:34 UTC 16088920 http://rdf.ncbi.nlm.nih.gov/pubmed/16088920 "" "" "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1863 1863 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2509 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 2509 Frontal face 2022-04-18 21:44:34 UTC 21857958 http://rdf.ncbi.nlm.nih.gov/pubmed/21857958 "" "" "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1863 1863 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2509 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 2509 Frontal face 2022-04-18 21:44:34 UTC 21857958 http://rdf.ncbi.nlm.nih.gov/pubmed/21857958 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1888 1888 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2566 female RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 2566 Frontal face 2022-04-18 21:44:34 UTC 24311527 http://rdf.ncbi.nlm.nih.gov/pubmed/24311527 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1888 1888 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2566 female RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 2566 Frontal face 2022-04-18 21:44:34 UTC 24311527 http://rdf.ncbi.nlm.nih.gov/pubmed/24311527 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1893 1893 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2575 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 American - African/Black "" 2575 Frontal face 2022-04-18 21:44:34 UTC 25118007 http://rdf.ncbi.nlm.nih.gov/pubmed/25118007 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1893 1893 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2575 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 American - African/Black "" 2575 Frontal face 2022-04-18 21:44:34 UTC 25118007 http://rdf.ncbi.nlm.nih.gov/pubmed/25118007 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2601 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2601 Frontal face 2022-04-18 21:44:34 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1906 1906 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2601 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2601 Frontal face 2022-04-18 21:44:34 UTC 26012591 http://rdf.ncbi.nlm.nih.gov/pubmed/26012591 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2629 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2629 Frontal face 2022-04-18 21:44:34 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2629 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2629 Frontal face 2022-04-18 21:44:34 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2631 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2631 Frontal face 2022-04-18 21:44:34 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2631 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2631 Frontal face 2022-04-18 21:44:34 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2633 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2633 Frontal face 2022-04-18 21:44:34 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1920 1920 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2633 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 2633 Frontal face 2022-04-18 21:44:34 UTC 26738611 http://rdf.ncbi.nlm.nih.gov/pubmed/26738611 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1922 1922 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2635 unknown ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2635 Frontal face 2022-04-18 21:44:34 UTC 26852091 http://rdf.ncbi.nlm.nih.gov/pubmed/26852091 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1922 1922 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2635 unknown ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2635 Frontal face 2022-04-18 21:44:34 UTC 26852091 http://rdf.ncbi.nlm.nih.gov/pubmed/26852091 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1922 1922 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2636 unknown ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2636 Frontal face 2022-04-18 21:44:34 UTC 26852091 http://rdf.ncbi.nlm.nih.gov/pubmed/26852091 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1922 1922 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2636 unknown ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2636 Frontal face 2022-04-18 21:44:34 UTC 26852091 http://rdf.ncbi.nlm.nih.gov/pubmed/26852091 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1922 1922 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2637 unknown ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2637 Frontal face 2022-04-18 21:44:34 UTC 26852091 http://rdf.ncbi.nlm.nih.gov/pubmed/26852091 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1922 1922 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2637 unknown ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2637 Frontal face 2022-04-18 21:44:34 UTC 26852091 http://rdf.ncbi.nlm.nih.gov/pubmed/26852091 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1922 1922 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2638 unknown ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2638 Frontal face 2022-04-18 21:44:34 UTC 26852091 http://rdf.ncbi.nlm.nih.gov/pubmed/26852091 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1922 1922 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2638 unknown ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 2638 Frontal face 2022-04-18 21:44:34 UTC 26852091 http://rdf.ncbi.nlm.nih.gov/pubmed/26852091 "" "" "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1759 1759 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_16775 female FLNB http://identifiers.org/ncbigene/2317 "" "" 16775 Hand X-ray 2024-01-15 16:02:48 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 1 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1759 1759 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_16776 female FLNB http://identifiers.org/ncbigene/2317 "" "" 16776 Others 2024-01-15 16:03:13 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 1 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1759 1759 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_16777 female FLNB http://identifiers.org/ncbigene/2317 "" "" 16777 Others 2024-01-15 16:03:35 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 1 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1759 1759 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_16778 female FLNB http://identifiers.org/ncbigene/2317 "" "" 16778 Hand X-ray 2024-01-15 16:04:07 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 14 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1759 1759 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_16779 female FLNB http://identifiers.org/ncbigene/2317 "" "" 16779 Hand X-ray 2024-01-15 16:04:30 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 14 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/1776 1776 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_16792 female TWIST1 http://identifiers.org/ncbigene/7291 "" "" 16792 Others 2024-01-17 19:30:37 UTC 10094188 http://rdf.ncbi.nlm.nih.gov/pubmed/10094188 8 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/1776 1776 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_16793 female TWIST1 http://identifiers.org/ncbigene/7291 "" "" 16793 Limbs 2024-04-09 23:31:40 UTC 10094188 http://rdf.ncbi.nlm.nih.gov/pubmed/10094188 8 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/1776 1776 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_2337 female TWIST1 http://identifiers.org/ncbigene/7291 "" "" 2337 Frontal face 2023-11-12 14:20:02 UTC 10094188 http://rdf.ncbi.nlm.nih.gov/pubmed/10094188 8 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1794 1794 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2383 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2383 Profile 2021-04-14 12:11:44 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1794 1794 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2383 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2383 Profile 2021-04-14 12:11:44 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1799 1799 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2394 female LMNA http://identifiers.org/ncbigene/4000 "" "" 2394 Frontal face 2023-11-19 08:25:19 UTC 12702809 http://rdf.ncbi.nlm.nih.gov/pubmed/12702809 6 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1799 1799 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2394 female LMNA http://identifiers.org/ncbigene/4000 "" "" 2394 Frontal face 2023-11-19 08:25:19 UTC 12702809 http://rdf.ncbi.nlm.nih.gov/pubmed/12702809 6 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1803 1803 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2401 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2401 Profile 2023-11-19 16:24:57 UTC 14679597 http://rdf.ncbi.nlm.nih.gov/pubmed/14679597 1 4 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1803 1803 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2401 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2401 Profile 2023-11-19 16:24:57 UTC 14679597 http://rdf.ncbi.nlm.nih.gov/pubmed/14679597 1 4 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1803 1803 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2402 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2402 Frontal face 2023-11-19 16:25:04 UTC 14679597 http://rdf.ncbi.nlm.nih.gov/pubmed/14679597 1 4 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1803 1803 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2402 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2402 Frontal face 2023-11-19 16:25:04 UTC 14679597 http://rdf.ncbi.nlm.nih.gov/pubmed/14679597 1 4 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1810 1810 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2413 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2413 Frontal face 2023-11-19 17:19:58 UTC 15793835 http://rdf.ncbi.nlm.nih.gov/pubmed/15793835 4 6 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1810 1810 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2413 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2413 Frontal face 2023-11-19 17:19:58 UTC 15793835 http://rdf.ncbi.nlm.nih.gov/pubmed/15793835 4 6 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1810 1810 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2414 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2414 Others 2023-11-19 17:20:09 UTC 15793835 http://rdf.ncbi.nlm.nih.gov/pubmed/15793835 4 6 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1810 1810 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2414 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2414 Others 2023-11-19 17:20:09 UTC 15793835 http://rdf.ncbi.nlm.nih.gov/pubmed/15793835 4 6 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1810 1810 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2415 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2415 Hand X-ray 2023-11-19 17:20:18 UTC 15793835 http://rdf.ncbi.nlm.nih.gov/pubmed/15793835 4 6 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1810 1810 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2415 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2415 Hand X-ray 2023-11-19 17:20:18 UTC 15793835 http://rdf.ncbi.nlm.nih.gov/pubmed/15793835 4 6 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/1819 1819 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_2425 male CHD7 http://identifiers.org/ncbigene/55636 "" "" 2425 Frontal face 2023-11-20 11:18:15 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 3 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/1819 1819 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_2425 male CHD7 http://identifiers.org/ncbigene/55636 "" "" 2425 Frontal face 2023-11-20 11:18:15 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 3 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1821 1821 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2428 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2428 Frontal face 2023-11-21 08:59:21 UTC 16532472 http://rdf.ncbi.nlm.nih.gov/pubmed/16532472 4 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1821 1821 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2428 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2428 Frontal face 2023-11-21 08:59:21 UTC 16532472 http://rdf.ncbi.nlm.nih.gov/pubmed/16532472 4 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1821 1821 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2429 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2429 Profile 2023-11-21 08:59:27 UTC 16532472 http://rdf.ncbi.nlm.nih.gov/pubmed/16532472 4 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1821 1821 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2429 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2429 Profile 2023-11-21 08:59:27 UTC 16532472 http://rdf.ncbi.nlm.nih.gov/pubmed/16532472 4 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1823 1823 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2433 male ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2433 Others 2023-11-21 09:01:57 UTC 16688751 http://rdf.ncbi.nlm.nih.gov/pubmed/16688751 2 6 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1823 1823 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2433 male ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2433 Others 2023-11-21 09:01:57 UTC 16688751 http://rdf.ncbi.nlm.nih.gov/pubmed/16688751 2 6 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1823 1823 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2434 male ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2434 Frontal face 2023-11-21 09:01:29 UTC 16688751 http://rdf.ncbi.nlm.nih.gov/pubmed/16688751 2 6 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1823 1823 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2434 male ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2434 Frontal face 2023-11-21 09:01:29 UTC 16688751 http://rdf.ncbi.nlm.nih.gov/pubmed/16688751 2 6 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1823 1823 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2435 male ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2435 Hand X-ray 2021-04-14 12:11:44 UTC 16688751 http://rdf.ncbi.nlm.nih.gov/pubmed/16688751 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1823 1823 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2435 male ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2435 Hand X-ray 2021-04-14 12:11:44 UTC 16688751 http://rdf.ncbi.nlm.nih.gov/pubmed/16688751 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1824 1824 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2436 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2436 Frontal face 2023-11-21 09:27:53 UTC 16825282 http://rdf.ncbi.nlm.nih.gov/pubmed/16825282 2 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1824 1824 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2436 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2436 Frontal face 2023-11-21 09:27:53 UTC 16825282 http://rdf.ncbi.nlm.nih.gov/pubmed/16825282 2 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1824 1824 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2437 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2437 Limbs 2023-11-21 09:27:58 UTC 16825282 http://rdf.ncbi.nlm.nih.gov/pubmed/16825282 2 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1824 1824 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2437 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2437 Limbs 2023-11-21 09:27:58 UTC 16825282 http://rdf.ncbi.nlm.nih.gov/pubmed/16825282 2 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1824 1824 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2438 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2438 Profile 2023-11-21 09:28:04 UTC 16825282 http://rdf.ncbi.nlm.nih.gov/pubmed/16825282 2 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1824 1824 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2438 male LMNA http://identifiers.org/ncbigene/4000 "" "" 2438 Profile 2023-11-21 09:28:04 UTC 16825282 http://rdf.ncbi.nlm.nih.gov/pubmed/16825282 2 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1825 1825 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2439 male RAI1 http://identifiers.org/ncbigene/10743 "" "" 2439 Frontal face 2023-11-21 18:54:58 UTC 17041942 http://rdf.ncbi.nlm.nih.gov/pubmed/17041942 9 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1825 1825 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2439 male RAI1 http://identifiers.org/ncbigene/10743 "" "" 2439 Frontal face 2023-11-21 18:54:58 UTC 17041942 http://rdf.ncbi.nlm.nih.gov/pubmed/17041942 9 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1828 1828 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2443 female LMNA http://identifiers.org/ncbigene/4000 "" "" 2443 Frontal face 2023-11-22 15:36:34 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 8 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1828 1828 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2443 female LMNA http://identifiers.org/ncbigene/4000 "" "" 2443 Frontal face 2023-11-22 15:36:34 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 8 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1828 1828 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2444 female LMNA http://identifiers.org/ncbigene/4000 "" "" 2444 Frontal face 2023-11-22 15:36:42 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 2 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1828 1828 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2444 female LMNA http://identifiers.org/ncbigene/4000 "" "" 2444 Frontal face 2023-11-22 15:36:42 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 2 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1828 1828 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2445 female LMNA http://identifiers.org/ncbigene/4000 "" "" 2445 Frontal face 2023-11-22 15:36:50 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 6 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1828 1828 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2445 female LMNA http://identifiers.org/ncbigene/4000 "" "" 2445 Frontal face 2023-11-22 15:36:50 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 6 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/1834 1834 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_2455 female CHD7 http://identifiers.org/ncbigene/55636 "" "" 2455 Frontal face 2023-11-23 10:29:17 UTC 18074359 http://rdf.ncbi.nlm.nih.gov/pubmed/18074359 23 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/1834 1834 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_2455 female CHD7 http://identifiers.org/ncbigene/55636 "" "" 2455 Frontal face 2023-11-23 10:29:17 UTC 18074359 http://rdf.ncbi.nlm.nih.gov/pubmed/18074359 23 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/1857 1857 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2495 unknown RECQL4 http://identifiers.org/ncbigene/9401 "" "" 2495 Limbs 2021-04-14 12:11:44 UTC 21418107 http://rdf.ncbi.nlm.nih.gov/pubmed/21418107 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1892 1892 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2572 male RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2572 Profile 2021-04-14 12:11:45 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1892 1892 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2572 male RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2572 Profile 2021-04-14 12:11:45 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1892 1892 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2574 male RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2574 Limbs 2021-04-14 12:11:45 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1892 1892 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2574 male RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2574 Limbs 2021-04-14 12:11:45 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1904 1904 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2597 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2597 Profile 2021-04-14 12:11:45 UTC 25899569 http://rdf.ncbi.nlm.nih.gov/pubmed/25899569 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1904 1904 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2597 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2597 Profile 2021-04-14 12:11:45 UTC 25899569 http://rdf.ncbi.nlm.nih.gov/pubmed/25899569 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1904 1904 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2598 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2598 Others 2021-04-14 12:11:45 UTC 25899569 http://rdf.ncbi.nlm.nih.gov/pubmed/25899569 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1904 1904 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2598 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2598 Others 2021-04-14 12:11:45 UTC 25899569 http://rdf.ncbi.nlm.nih.gov/pubmed/25899569 0 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1905 1905 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_2599 male IDS http://identifiers.org/ncbigene/3423 "" "" 2599 Frontal face 2023-11-29 13:53:47 UTC 25976201 http://rdf.ncbi.nlm.nih.gov/pubmed/25976201 24 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/1905 1905 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_2599 male IDS http://identifiers.org/ncbigene/3423 "" "" 2599 Frontal face 2023-11-29 13:53:47 UTC 25976201 http://rdf.ncbi.nlm.nih.gov/pubmed/25976201 24 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1919 1919 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2626 unknown NSD1 http://identifiers.org/ncbigene/64324 "" "" 2626 Limbs 2021-04-14 12:11:45 UTC 26613968 http://rdf.ncbi.nlm.nih.gov/pubmed/26613968 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1919 1919 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2626 unknown NSD1 http://identifiers.org/ncbigene/64324 "" "" 2626 Limbs 2021-04-14 12:11:45 UTC 26613968 http://rdf.ncbi.nlm.nih.gov/pubmed/26613968 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1919 1919 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2627 unknown NSD1 http://identifiers.org/ncbigene/64324 "" "" 2627 Others 2021-04-14 12:11:45 UTC 26613968 http://rdf.ncbi.nlm.nih.gov/pubmed/26613968 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1919 1919 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2627 unknown NSD1 http://identifiers.org/ncbigene/64324 "" "" 2627 Others 2021-04-14 12:11:45 UTC 26613968 http://rdf.ncbi.nlm.nih.gov/pubmed/26613968 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1934 1934 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2664 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2664 Limbs 2021-04-14 12:11:45 UTC 28190284 http://rdf.ncbi.nlm.nih.gov/pubmed/28190284 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1934 1934 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2664 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2664 Limbs 2021-04-14 12:11:45 UTC 28190284 http://rdf.ncbi.nlm.nih.gov/pubmed/28190284 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1934 1934 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2665 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2665 Profile 2021-04-14 12:11:45 UTC 28190284 http://rdf.ncbi.nlm.nih.gov/pubmed/28190284 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1934 1934 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2665 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2665 Profile 2021-04-14 12:11:45 UTC 28190284 http://rdf.ncbi.nlm.nih.gov/pubmed/28190284 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1934 1934 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2667 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2667 MRI 2021-04-14 12:11:45 UTC 28190284 http://rdf.ncbi.nlm.nih.gov/pubmed/28190284 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1934 1934 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2667 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2667 MRI 2021-04-14 12:11:45 UTC 28190284 http://rdf.ncbi.nlm.nih.gov/pubmed/28190284 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/1935 1935 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2668 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 2668 Frontal face 2022-12-31 12:33:07 UTC 28807867 http://rdf.ncbi.nlm.nih.gov/pubmed/28807867 6 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/1935 1935 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2669 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 2669 Frontal face 2022-12-31 12:32:58 UTC 28807867 http://rdf.ncbi.nlm.nih.gov/pubmed/28807867 3 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1937 1937 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2671 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2671 Frontal face 2024-01-22 17:06:26 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 16 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1937 1937 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2671 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2671 Frontal face 2024-01-22 17:06:26 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 16 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/1991 1991 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_2733 female ASXL3 http://identifiers.org/ncbigene/80816 "" "" 2733 Frontal face 2022-02-25 18:04:10 UTC 27901041 http://rdf.ncbi.nlm.nih.gov/pubmed/27901041 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2050 2050 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2786 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 2786 Frontal face 2022-02-25 18:05:50 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2051 2051 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2787 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 2787 Frontal face 2022-02-25 18:05:51 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2052 2052 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2788 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 2788 Frontal face 2022-02-25 18:05:54 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2048 2048 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2789 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 2789 Frontal face 2022-02-25 18:05:55 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2049 2049 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2790 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 2790 Frontal face 2022-02-25 18:05:57 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2047 2047 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2791 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 2791 Frontal face 2022-02-25 18:05:59 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2044 2044 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2792 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 2792 Frontal face 2022-02-25 18:06:01 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2044 2044 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2793 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 2793 Frontal face 2022-02-25 18:06:03 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2045 2045 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2794 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 2794 Frontal face 2022-02-25 18:06:05 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/2046 2046 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_2795 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 2795 Frontal face 2022-02-25 18:06:06 UTC 22045651 http://rdf.ncbi.nlm.nih.gov/pubmed/22045651 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/2122 2122 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2883 unknown RECQL4 http://identifiers.org/ncbigene/9401 "" "" 2883 Frontal face 2022-02-25 18:08:00 UTC 25120469 http://rdf.ncbi.nlm.nih.gov/pubmed/25120469 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/2123 2123 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2884 unknown RECQL4 http://identifiers.org/ncbigene/9401 "" "" 2884 Frontal face 2022-02-25 18:08:01 UTC 1430398 http://rdf.ncbi.nlm.nih.gov/pubmed/1430398 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/2159 2159 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_2943 female FGFR1 http://identifiers.org/ncbigene/2260 "" "" 2943 Hand X-ray 2021-04-14 12:11:46 UTC 29019756 http://rdf.ncbi.nlm.nih.gov/pubmed/29019756 0 4 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/2159 2159 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_2943 female FGFR1 http://identifiers.org/ncbigene/2260 "" "" 2943 Hand X-ray 2021-04-14 12:11:46 UTC 29019756 http://rdf.ncbi.nlm.nih.gov/pubmed/29019756 0 4 "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/2161 2161 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_2945 male FGFR2 http://identifiers.org/ncbigene/2263 "" "" 2945 Hand X-ray 2021-04-14 12:11:46 UTC 29019756 http://rdf.ncbi.nlm.nih.gov/pubmed/29019756 0 7 "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/2161 2161 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_2945 male FGFR2 http://identifiers.org/ncbigene/2263 "" "" 2945 Hand X-ray 2021-04-14 12:11:46 UTC 29019756 http://rdf.ncbi.nlm.nih.gov/pubmed/29019756 0 7 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/2162 2162 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_2946 male FGFR3 http://identifiers.org/ncbigene/2261 "" "" 2946 Hand X-ray 2021-04-14 12:11:46 UTC 34068396 http://rdf.ncbi.nlm.nih.gov/pubmed/34068396 3 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/2162 2162 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_2946 male FGFR3 http://identifiers.org/ncbigene/2261 "" "" 2946 Hand X-ray 2021-04-14 12:11:46 UTC 34068396 http://rdf.ncbi.nlm.nih.gov/pubmed/34068396 3 0 "" NANDO:2201010 MONDO:0007793 OMIM:146000 https://db.gestaltmatcher.org/patients/2163 2163 HYPOCHONDROPLASIA https://db.gestaltmatcher.org/patients/image_2947 male FGFR3 http://identifiers.org/ncbigene/2261 "" "" 2947 Hand X-ray 2021-04-14 12:11:46 UTC 29019756 http://rdf.ncbi.nlm.nih.gov/pubmed/29019756 1 4 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/1759 1759 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_2302 female FLNB http://identifiers.org/ncbigene/2317 "" "" 2302 Frontal face 2022-04-18 21:44:34 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1784 1784 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2346 male DHCR7 http://identifiers.org/ncbigene/1717 "" "" 2346 Frontal face 2022-04-18 21:44:34 UTC 24954735 http://rdf.ncbi.nlm.nih.gov/pubmed/24954735 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/1784 1784 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_2346 male DHCR7 http://identifiers.org/ncbigene/1717 "" "" 2346 Frontal face 2022-04-18 21:44:34 UTC 24954735 http://rdf.ncbi.nlm.nih.gov/pubmed/24954735 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1794 1794 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2384 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2384 Frontal face 2022-04-18 21:44:34 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1794 1794 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2384 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2384 Frontal face 2022-04-18 21:44:34 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1794 1794 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2385 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2385 Frontal face 2022-04-18 21:44:34 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1794 1794 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2385 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2385 Frontal face 2022-04-18 21:44:34 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1812 1812 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2417 male NSD1 http://identifiers.org/ncbigene/64324 "" "" 2417 Frontal face 2022-04-18 21:44:34 UTC 15942875 http://rdf.ncbi.nlm.nih.gov/pubmed/15942875 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1812 1812 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2417 male NSD1 http://identifiers.org/ncbigene/64324 "" "" 2417 Frontal face 2022-04-18 21:44:34 UTC 15942875 http://rdf.ncbi.nlm.nih.gov/pubmed/15942875 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/1826 1826 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_2440 female HRAS http://identifiers.org/ncbigene/3265 "" "" 2440 Frontal face 2022-04-18 21:44:34 UTC 17054105 http://rdf.ncbi.nlm.nih.gov/pubmed/17054105 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/1826 1826 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_2440 female HRAS http://identifiers.org/ncbigene/3265 "" "" 2440 Frontal face 2022-04-18 21:44:34 UTC 17054105 http://rdf.ncbi.nlm.nih.gov/pubmed/17054105 "" "" "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/1845 1845 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_2471 unknown IDUA http://identifiers.org/ncbigene/3425 "" "" 2471 Frontal face 2022-04-18 21:44:34 UTC 20026495 http://rdf.ncbi.nlm.nih.gov/pubmed/20026495 "" "" "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/1845 1845 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_2472 unknown IDUA http://identifiers.org/ncbigene/3425 "" "" 2472 Frontal face 2022-04-18 21:44:34 UTC 20026495 http://rdf.ncbi.nlm.nih.gov/pubmed/20026495 "" "" "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/1845 1845 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_2473 unknown IDUA http://identifiers.org/ncbigene/3425 "" "" 2473 Frontal face 2022-04-18 21:44:34 UTC 20026495 http://rdf.ncbi.nlm.nih.gov/pubmed/20026495 "" "" "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1849 1849 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2478 unknown RAI1 http://identifiers.org/ncbigene/10743 "" "" 2478 Frontal face 2022-04-18 21:44:34 UTC 20932317 http://rdf.ncbi.nlm.nih.gov/pubmed/20932317 "" "" "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1849 1849 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2478 unknown RAI1 http://identifiers.org/ncbigene/10743 "" "" 2478 Frontal face 2022-04-18 21:44:34 UTC 20932317 http://rdf.ncbi.nlm.nih.gov/pubmed/20932317 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/1852 1852 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_2482 unknown FMR1 http://identifiers.org/ncbigene/2332 "" "" 2482 Frontal face 2022-04-18 21:44:34 UTC 21267007 http://rdf.ncbi.nlm.nih.gov/pubmed/21267007 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/1852 1852 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_2482 unknown FMR1 http://identifiers.org/ncbigene/2332 "" "" 2482 Frontal face 2022-04-18 21:44:34 UTC 21267007 http://rdf.ncbi.nlm.nih.gov/pubmed/21267007 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/1852 1852 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_2483 unknown FMR1 http://identifiers.org/ncbigene/2332 "" "" 2483 Frontal face 2022-04-18 21:44:34 UTC 21267007 http://rdf.ncbi.nlm.nih.gov/pubmed/21267007 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/1852 1852 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_2483 unknown FMR1 http://identifiers.org/ncbigene/2332 "" "" 2483 Frontal face 2022-04-18 21:44:34 UTC 21267007 http://rdf.ncbi.nlm.nih.gov/pubmed/21267007 "" "" "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/1857 1857 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_2494 unknown RECQL4 http://identifiers.org/ncbigene/9401 "" "" 2494 Frontal face 2022-04-18 21:44:34 UTC 21418107 http://rdf.ncbi.nlm.nih.gov/pubmed/21418107 "" "" "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1890 1890 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2568 unknown RAI1 http://identifiers.org/ncbigene/10743 "" "" 2568 Frontal face 2022-04-18 21:44:34 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 "" "" "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/1890 1890 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_2568 unknown RAI1 http://identifiers.org/ncbigene/10743 "" "" 2568 Frontal face 2022-04-18 21:44:34 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1892 1892 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2573 male RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2573 Frontal face 2022-04-18 21:44:34 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1892 1892 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2573 male RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2573 Frontal face 2022-04-18 21:44:34 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1904 1904 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2596 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2596 Frontal face 2022-04-18 21:44:34 UTC 25899569 http://rdf.ncbi.nlm.nih.gov/pubmed/25899569 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1904 1904 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2596 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2596 Frontal face 2022-04-18 21:44:34 UTC 25899569 http://rdf.ncbi.nlm.nih.gov/pubmed/25899569 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1908 1908 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2604 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2604 Frontal face 2022-04-18 21:44:34 UTC 26043507 http://rdf.ncbi.nlm.nih.gov/pubmed/26043507 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1908 1908 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2604 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2604 Frontal face 2022-04-18 21:44:34 UTC 26043507 http://rdf.ncbi.nlm.nih.gov/pubmed/26043507 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1912 1912 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2612 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2612 Frontal face 2022-04-18 21:44:34 UTC 26279655 http://rdf.ncbi.nlm.nih.gov/pubmed/26279655 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1912 1912 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2612 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2612 Frontal face 2022-04-18 21:44:34 UTC 26279655 http://rdf.ncbi.nlm.nih.gov/pubmed/26279655 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1912 1912 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2613 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2613 Frontal face 2022-04-18 21:44:34 UTC 26279655 http://rdf.ncbi.nlm.nih.gov/pubmed/26279655 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1912 1912 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2613 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2613 Frontal face 2022-04-18 21:44:34 UTC 26279655 http://rdf.ncbi.nlm.nih.gov/pubmed/26279655 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1919 1919 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2628 unknown NSD1 http://identifiers.org/ncbigene/64324 "" "" 2628 Frontal face 2022-04-18 21:44:34 UTC 26613968 http://rdf.ncbi.nlm.nih.gov/pubmed/26613968 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/1919 1919 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_2628 unknown NSD1 http://identifiers.org/ncbigene/64324 "" "" 2628 Frontal face 2022-04-18 21:44:34 UTC 26613968 http://rdf.ncbi.nlm.nih.gov/pubmed/26613968 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/1921 1921 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_2634 unknown ERCC6 http://identifiers.org/ncbigene/2074 "" "" 2634 Frontal face 2022-04-18 21:44:34 UTC 26749132 http://rdf.ncbi.nlm.nih.gov/pubmed/26749132 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1927 1927 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2649 unknown LMNA http://identifiers.org/ncbigene/4000 "" "" 2649 Frontal face 2022-04-18 21:44:34 UTC 27267192 http://rdf.ncbi.nlm.nih.gov/pubmed/27267192 "" "" "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1927 1927 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2649 unknown LMNA http://identifiers.org/ncbigene/4000 "" "" 2649 Frontal face 2022-04-18 21:44:34 UTC 27267192 http://rdf.ncbi.nlm.nih.gov/pubmed/27267192 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1927 1927 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2650 unknown LMNA http://identifiers.org/ncbigene/4000 "" "" 2650 Frontal face 2022-04-18 21:44:34 UTC 27267192 http://rdf.ncbi.nlm.nih.gov/pubmed/27267192 "" "" "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/1927 1927 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_2650 unknown LMNA http://identifiers.org/ncbigene/4000 "" "" 2650 Frontal face 2022-04-18 21:44:34 UTC 27267192 http://rdf.ncbi.nlm.nih.gov/pubmed/27267192 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/1933 1933 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_2663 unknown FMR1 http://identifiers.org/ncbigene/2332 "" "" 2663 Frontal face 2022-04-18 21:44:34 UTC 28176767 http://rdf.ncbi.nlm.nih.gov/pubmed/28176767 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/1933 1933 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_2663 unknown FMR1 http://identifiers.org/ncbigene/2332 "" "" 2663 Frontal face 2022-04-18 21:44:34 UTC 28176767 http://rdf.ncbi.nlm.nih.gov/pubmed/28176767 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1934 1934 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2666 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2666 Frontal face 2022-04-18 21:44:34 UTC 28190284 http://rdf.ncbi.nlm.nih.gov/pubmed/28190284 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/1934 1934 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_2666 unknown RPS6KA3 http://identifiers.org/ncbigene/6197 "" "" 2666 Frontal face 2022-04-18 21:44:34 UTC 28190284 http://rdf.ncbi.nlm.nih.gov/pubmed/28190284 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1937 1937 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2672 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2672 Frontal face 2022-04-18 21:44:34 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1937 1937 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2672 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2672 Frontal face 2022-04-18 21:44:34 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1937 1937 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2673 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2673 Frontal face 2022-04-18 21:44:34 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/1937 1937 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_2673 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 2673 Frontal face 2022-04-18 21:44:34 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/187 187 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_229 male "" "" Caucasian Caucasian 229 Frontal face 2022-04-18 21:44:34 UTC 26200160 http://rdf.ncbi.nlm.nih.gov/pubmed/26200160 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/187 187 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_229 male "" "" Caucasian Caucasian 229 Frontal face 2022-04-18 21:44:34 UTC 26200160 http://rdf.ncbi.nlm.nih.gov/pubmed/26200160 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/191 191 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_235 female "" "" Caucasian Turkish 235 Frontal face 2022-04-18 21:44:34 UTC 24057591 http://rdf.ncbi.nlm.nih.gov/pubmed/24057591 8 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/191 191 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_235 female "" "" Caucasian Turkish 235 Frontal face 2022-04-18 21:44:34 UTC 24057591 http://rdf.ncbi.nlm.nih.gov/pubmed/24057591 8 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/192 192 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_236 male "" "" Caucasian Turkish 236 Frontal face 2022-04-18 21:44:34 UTC 24057591 http://rdf.ncbi.nlm.nih.gov/pubmed/24057591 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/192 192 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_236 male "" "" Caucasian Turkish 236 Frontal face 2022-04-18 21:44:34 UTC 24057591 http://rdf.ncbi.nlm.nih.gov/pubmed/24057591 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/193 193 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_237 male "" "" Caucasian Turkish 237 Frontal face 2022-04-18 21:44:34 UTC 24057591 http://rdf.ncbi.nlm.nih.gov/pubmed/24057591 44 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/193 193 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_237 male "" "" Caucasian Turkish 237 Frontal face 2022-04-18 21:44:34 UTC 24057591 http://rdf.ncbi.nlm.nih.gov/pubmed/24057591 44 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/174 174 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_216 unknown "" "" "" Indian 216 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 0 3 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/174 174 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_216 unknown "" "" "" Indian 216 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 0 3 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/175 175 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_217 unknown "" "" "" Indian 217 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 0 5 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/175 175 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_217 unknown "" "" "" Indian 217 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 0 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/176 176 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_218 unknown "" "" "" Indian 218 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 0 8 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/176 176 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_218 unknown "" "" "" Indian 218 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 0 8 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/177 177 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_219 unknown "" "" "" Indian 219 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 1 3 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/177 177 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_219 unknown "" "" "" Indian 219 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 1 3 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/178 178 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_220 male "" "" "" Indian 220 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/178 178 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_220 male "" "" "" Indian 220 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/179 179 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_221 male "" "" "" Indian 221 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 5 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/179 179 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_221 male "" "" "" Indian 221 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 5 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/180 180 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_222 male "" "" "" Indian 222 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/180 180 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_222 male "" "" "" Indian 222 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/181 181 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_223 male "" "" "" Indian 223 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 8 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/181 181 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_223 male "" "" "" Indian 223 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 8 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/182 182 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_224 male "" "" "" Indian 224 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 10 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/182 182 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_224 male "" "" "" Indian 224 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/183 183 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_225 male "" "" "" Indian 225 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/183 183 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_225 male "" "" "" Indian 225 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/184 184 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_226 male "" "" "" Indian 226 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 13 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/184 184 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_226 male "" "" "" Indian 226 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/185 185 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_227 male "" "" "" Indian 227 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 18 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/185 185 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_227 male "" "" "" Indian 227 Frontal face 2022-04-18 21:44:34 UTC 26352091 http://rdf.ncbi.nlm.nih.gov/pubmed/26352091 18 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/188 188 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_230 male "" "" "" Caucasian 230 Frontal face 2022-04-18 21:44:34 UTC 18452001 http://rdf.ncbi.nlm.nih.gov/pubmed/18452001 1 3 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/188 188 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_230 male "" "" "" Caucasian 230 Frontal face 2022-04-18 21:44:34 UTC 18452001 http://rdf.ncbi.nlm.nih.gov/pubmed/18452001 1 3 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/188 188 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_231 male "" "" "" Caucasian 231 Frontal face 2022-04-18 21:44:34 UTC 18452001 http://rdf.ncbi.nlm.nih.gov/pubmed/18452001 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/188 188 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_231 male "" "" "" Caucasian 231 Frontal face 2022-04-18 21:44:34 UTC 18452001 http://rdf.ncbi.nlm.nih.gov/pubmed/18452001 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/188 188 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_232 male "" "" "" Caucasian 232 Frontal face 2022-04-18 21:44:34 UTC 18452001 http://rdf.ncbi.nlm.nih.gov/pubmed/18452001 21 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/188 188 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_232 male "" "" "" Caucasian 232 Frontal face 2022-04-18 21:44:34 UTC 18452001 http://rdf.ncbi.nlm.nih.gov/pubmed/18452001 21 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/189 189 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_233 male "" "" "" Caucasian 233 Frontal face 2022-04-18 21:44:34 UTC 18452001 http://rdf.ncbi.nlm.nih.gov/pubmed/18452001 21 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/189 189 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_233 male "" "" "" Caucasian 233 Frontal face 2022-04-18 21:44:34 UTC 18452001 http://rdf.ncbi.nlm.nih.gov/pubmed/18452001 21 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/194 194 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_238 female "" "" "" Caucasian 238 Frontal face 2022-04-18 21:44:34 UTC 26862942 http://rdf.ncbi.nlm.nih.gov/pubmed/26862942 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/194 194 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_238 female "" "" "" Caucasian 238 Frontal face 2022-04-18 21:44:34 UTC 26862942 http://rdf.ncbi.nlm.nih.gov/pubmed/26862942 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/198 198 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_246 female "" "" "" Caucasian 246 Frontal face 2022-04-18 21:44:34 UTC 11699823 http://rdf.ncbi.nlm.nih.gov/pubmed/11699823 27 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/198 198 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_246 female "" "" "" Caucasian 246 Frontal face 2022-04-18 21:44:34 UTC 11699823 http://rdf.ncbi.nlm.nih.gov/pubmed/11699823 27 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/198 198 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_247 female "" "" "" Caucasian 247 Profile 2022-04-18 21:44:34 UTC 11699823 http://rdf.ncbi.nlm.nih.gov/pubmed/11699823 27 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/198 198 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_247 female "" "" "" Caucasian 247 Profile 2022-04-18 21:44:34 UTC 11699823 http://rdf.ncbi.nlm.nih.gov/pubmed/11699823 27 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/20 20 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_26 female "" "" "" African-American 26 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/20 20 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_26 female "" "" "" African-American 26 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/21 21 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27 male "" "" "" African-American 27 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/21 21 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27 male "" "" "" African-American 27 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/22 22 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28 male "" "" "" African-American 28 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/22 22 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28 male "" "" "" African-American 28 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/2 2 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_1 male "" "" "" Caucasian 1 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 "" "" (young child) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/2 2 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_1 male "" "" "" Caucasian 1 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 "" "" (young child) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/190 190 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_234 male "" "" "" Caucasian 234 Frontal face 2022-04-18 21:44:34 UTC 23716381 http://rdf.ncbi.nlm.nih.gov/pubmed/23716381 "" "" (child) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/190 190 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_234 male "" "" "" Caucasian 234 Frontal face 2022-04-18 21:44:34 UTC 23716381 http://rdf.ncbi.nlm.nih.gov/pubmed/23716381 "" "" (child) NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2323 2323 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_15480 female GRIK4 http://identifiers.org/ncbigene/2900 Caucasian "" 15480 Profile 2023-09-08 13:21:34 UTC 31397880 http://rdf.ncbi.nlm.nih.gov/pubmed/31397880 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2323 2323 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_15480 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 15480 Profile 2023-09-08 13:21:34 UTC 31397880 http://rdf.ncbi.nlm.nih.gov/pubmed/31397880 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2323 2323 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_15481 female GRIK4 http://identifiers.org/ncbigene/2900 Caucasian "" 15481 Profile 2023-09-08 13:21:47 UTC 31397880 http://rdf.ncbi.nlm.nih.gov/pubmed/31397880 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2323 2323 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_15481 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 15481 Profile 2023-09-08 13:21:47 UTC 31397880 http://rdf.ncbi.nlm.nih.gov/pubmed/31397880 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2321 2321 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_3156 male PIK3CA http://identifiers.org/ncbigene/5290 Unknown "" 3156 Frontal face 2022-02-25 18:14:54 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2321 2321 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_3157 male PIK3CA http://identifiers.org/ncbigene/5290 Unknown "" 3157 Frontal face 2022-02-25 18:14:57 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2322 2322 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_3161 male MAGEL2 http://identifiers.org/ncbigene/54551 European "" 3161 Frontal face 2022-02-25 18:15:04 UTC 31397880 http://rdf.ncbi.nlm.nih.gov/pubmed/31397880 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2323 2323 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_3162 female GRIK4 http://identifiers.org/ncbigene/2900 Caucasian "" 3162 Frontal face 2022-02-25 18:15:05 UTC 31397880 http://rdf.ncbi.nlm.nih.gov/pubmed/31397880 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/2323 2323 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_3162 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 3162 Frontal face 2022-02-25 18:15:05 UTC 31397880 http://rdf.ncbi.nlm.nih.gov/pubmed/31397880 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2317 2317 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_15422 female PIK3CA http://identifiers.org/ncbigene/5290 "" "" 15422 Others 2023-08-27 15:11:44 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 0 0 not defined in paper NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2320 2320 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_15415 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 15415 Limbs 2023-08-23 18:31:51 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 11 2 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2320 2320 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_15416 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 15416 Limbs 2023-08-23 18:32:29 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 11 2 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2320 2320 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_15417 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 15417 MRI 2023-08-23 18:35:07 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 0 5 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2320 2320 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_15418 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 15418 MRI 2023-08-23 18:35:16 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 1 9 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2317 2317 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_15423 female PIK3CA http://identifiers.org/ncbigene/5290 "" "" 15423 Limbs 2023-08-27 15:11:57 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2320 2320 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_3154 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 3154 Frontal face 2022-02-25 18:14:50 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2320 2320 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_3155 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 3155 Frontal face 2022-02-25 18:14:53 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2316 2316 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_3158 male PIK3CA http://identifiers.org/ncbigene/5290 "" "" 3158 Frontal face 2022-02-25 18:14:57 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 0 0 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2317 2317 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_3159 female PIK3CA http://identifiers.org/ncbigene/5290 "" "" 3159 Frontal face 2023-08-27 15:20:51 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 24 2 "" NANDO:2200823 MONDO:0011240 OMIM:602501 https://db.gestaltmatcher.org/patients/2318 2318 MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME https://db.gestaltmatcher.org/patients/image_3160 unknown PIK3CA http://identifiers.org/ncbigene/5290 "" "" 3160 Frontal face 2023-08-27 15:28:07 UTC 33415748 http://rdf.ncbi.nlm.nih.gov/pubmed/33415748 6 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/23 23 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29 male "" "" "" African-American 29 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 12 9 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/23 23 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29 male "" "" "" African-American 29 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 12 9 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2882 2882 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_4468 male LMNA http://identifiers.org/ncbigene/4000 African togolese 4468 Frontal face 2023-09-25 13:46:10 UTC 32297714 http://rdf.ncbi.nlm.nih.gov/pubmed/32297714 0 0 at birth NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2882 2882 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_4468 male LMNA http://identifiers.org/ncbigene/4000 African togolese 4468 Frontal face 2023-09-25 13:46:10 UTC 32297714 http://rdf.ncbi.nlm.nih.gov/pubmed/32297714 0 0 at birth NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2494 2494 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_15916 female CHD7 http://identifiers.org/ncbigene/55636 European French 15916 Profile 2023-10-16 11:40:06 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2494 2494 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_15916 female CHD7 http://identifiers.org/ncbigene/55636 European French 15916 Profile 2023-10-16 11:40:06 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2495 2495 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_15917 male CHD7 http://identifiers.org/ncbigene/55636 European french 15917 Profile 2023-10-16 11:53:53 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2495 2495 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_15917 male CHD7 http://identifiers.org/ncbigene/55636 European french 15917 Profile 2023-10-16 11:53:53 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/2505 2505 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_15920 male IDUA http://identifiers.org/ncbigene/3425 European - Southern Italian 15920 Hand X-ray 2023-10-18 11:28:26 UTC 20026495 http://rdf.ncbi.nlm.nih.gov/pubmed/20026495 5 5 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2473 2473 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3364 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 3364 Frontal face 2023-10-12 16:10:52 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 2 6 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2473 2473 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3364 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 3364 Frontal face 2023-10-12 16:10:52 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 2 6 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2473 2473 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3365 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 3365 Frontal face 2023-10-12 16:02:45 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 29 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2473 2473 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3365 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 3365 Frontal face 2023-10-12 16:02:45 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 29 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2473 2473 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3366 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 3366 Frontal face 2023-10-12 16:03:01 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 29 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2473 2473 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3366 male NSD1 http://identifiers.org/ncbigene/64324 European Finnish 3366 Frontal face 2023-10-12 16:03:01 UTC 12525543 http://rdf.ncbi.nlm.nih.gov/pubmed/12525543 29 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2474 2474 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3367 female NSD1 http://identifiers.org/ncbigene/64324 Asian - West/Middle Eastern turkish 3367 Frontal face 2023-11-19 16:17:30 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 10 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2474 2474 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3367 female NSD1 http://identifiers.org/ncbigene/64324 Asian - West/Middle Eastern turkish 3367 Frontal face 2023-11-19 16:17:30 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 10 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2476 2476 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3369 female NSD1 http://identifiers.org/ncbigene/64324 Asian - West/Middle Eastern Turkish 3369 Frontal face 2023-11-19 16:20:39 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 37 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2476 2476 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3369 female NSD1 http://identifiers.org/ncbigene/64324 Asian - West/Middle Eastern Turkish 3369 Frontal face 2023-11-19 16:20:39 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 37 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2477 2477 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3370 male NSD1 http://identifiers.org/ncbigene/64324 European German 3370 Frontal face 2023-11-19 16:21:52 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 1 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2477 2477 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3370 male NSD1 http://identifiers.org/ncbigene/64324 European German 3370 Frontal face 2023-11-19 16:21:52 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 1 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2478 2478 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3371 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian India 3371 Profile 2023-10-13 06:53:21 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 4 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2478 2478 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3371 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian India 3371 Profile 2023-10-13 06:53:21 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 4 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2478 2478 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3372 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian India 3372 Frontal face 2023-10-13 06:53:32 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 4 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2478 2478 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3372 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian India 3372 Frontal face 2023-10-13 06:53:32 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 4 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2478 2478 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3373 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian India 3373 Frontal face 2023-10-13 06:53:41 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 4 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2478 2478 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3373 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian India 3373 Frontal face 2023-10-13 06:53:41 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 4 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2478 2478 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3374 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian India 3374 Limbs 2023-10-13 06:53:51 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 4 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2478 2478 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3374 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian India 3374 Limbs 2023-10-13 06:53:51 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 4 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2499 2499 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3415 male DHCR7 http://identifiers.org/ncbigene/1717 European Polish 3415 Frontal face 2023-10-16 14:23:57 UTC 18249054 http://rdf.ncbi.nlm.nih.gov/pubmed/18249054 9 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2499 2499 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3415 male DHCR7 http://identifiers.org/ncbigene/1717 European Polish 3415 Frontal face 2023-10-16 14:23:57 UTC 18249054 http://rdf.ncbi.nlm.nih.gov/pubmed/18249054 9 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2500 2500 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3416 male DHCR7 http://identifiers.org/ncbigene/1717 European Polish 3416 Frontal face 2023-10-16 14:51:08 UTC 18249054 http://rdf.ncbi.nlm.nih.gov/pubmed/18249054 4 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2500 2500 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3416 male DHCR7 http://identifiers.org/ncbigene/1717 European Polish 3416 Frontal face 2023-10-16 14:51:08 UTC 18249054 http://rdf.ncbi.nlm.nih.gov/pubmed/18249054 4 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2501 2501 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3417 female DHCR7 http://identifiers.org/ncbigene/1717 European Polish 3417 Frontal face 2023-10-17 10:20:53 UTC 18249054 http://rdf.ncbi.nlm.nih.gov/pubmed/18249054 16 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2501 2501 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3417 female DHCR7 http://identifiers.org/ncbigene/1717 European Polish 3417 Frontal face 2023-10-17 10:20:53 UTC 18249054 http://rdf.ncbi.nlm.nih.gov/pubmed/18249054 16 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2502 2502 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3418 female NSD1 http://identifiers.org/ncbigene/64324 European German 3418 Profile 2023-10-18 11:12:59 UTC 19545651 http://rdf.ncbi.nlm.nih.gov/pubmed/19545651 8 6 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2502 2502 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3418 female NSD1 http://identifiers.org/ncbigene/64324 European German 3418 Profile 2023-10-18 11:12:59 UTC 19545651 http://rdf.ncbi.nlm.nih.gov/pubmed/19545651 8 6 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2502 2502 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3419 female NSD1 http://identifiers.org/ncbigene/64324 European German 3419 Frontal face 2023-10-18 11:13:08 UTC 19545651 http://rdf.ncbi.nlm.nih.gov/pubmed/19545651 8 6 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2502 2502 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3419 female NSD1 http://identifiers.org/ncbigene/64324 European German 3419 Frontal face 2023-10-18 11:13:08 UTC 19545651 http://rdf.ncbi.nlm.nih.gov/pubmed/19545651 8 6 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/2505 2505 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_3430 male IDUA http://identifiers.org/ncbigene/3425 European - Southern Italian 3430 Frontal face 2023-10-18 11:28:44 UTC 20026495 http://rdf.ncbi.nlm.nih.gov/pubmed/20026495 0 5 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/2505 2505 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_3431 male IDUA http://identifiers.org/ncbigene/3425 European - Southern Italian 3431 Frontal face 2023-10-18 11:28:58 UTC 20026495 http://rdf.ncbi.nlm.nih.gov/pubmed/20026495 5 5 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/2510 2510 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_3439 female IDS http://identifiers.org/ncbigene/3423 European Polish 3439 Frontal face 2023-10-18 18:12:43 UTC 21672014 http://rdf.ncbi.nlm.nih.gov/pubmed/21672014 4 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/2510 2510 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_3439 female IDS http://identifiers.org/ncbigene/3423 European Polish 3439 Frontal face 2023-10-18 18:12:43 UTC 21672014 http://rdf.ncbi.nlm.nih.gov/pubmed/21672014 4 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2511 2511 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3440 male DHCR7 http://identifiers.org/ncbigene/1717 Asian - West/Middle Eastern Arabic 3440 Frontal face 2023-11-13 17:39:56 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 1 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2511 2511 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3440 male DHCR7 http://identifiers.org/ncbigene/1717 Asian - West/Middle Eastern Arabic 3440 Frontal face 2023-11-13 17:39:56 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 1 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2511 2511 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3441 male DHCR7 http://identifiers.org/ncbigene/1717 Asian - West/Middle Eastern Arabic 3441 Limbs 2023-11-13 17:40:04 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 1 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2511 2511 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3441 male DHCR7 http://identifiers.org/ncbigene/1717 Asian - West/Middle Eastern Arabic 3441 Limbs 2023-11-13 17:40:04 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 1 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2511 2511 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3442 male DHCR7 http://identifiers.org/ncbigene/1717 Asian - West/Middle Eastern Arabic 3442 Others 2023-11-13 17:40:12 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 1 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/2511 2511 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_3442 male DHCR7 http://identifiers.org/ncbigene/1717 Asian - West/Middle Eastern Arabic 3442 Others 2023-11-13 17:40:12 UTC 21696385 http://rdf.ncbi.nlm.nih.gov/pubmed/21696385 1 6 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/2548 2548 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_3534 male IDUA http://identifiers.org/ncbigene/3425 Caucasian Brazilian 3534 Limbs 2021-05-01 16:36:16 UTC 25256405 http://rdf.ncbi.nlm.nih.gov/pubmed/25256405 0 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/2548 2548 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_3535 male IDUA http://identifiers.org/ncbigene/3425 Caucasian Brazilian 3535 Frontal face 2023-11-14 17:30:48 UTC 25256405 http://rdf.ncbi.nlm.nih.gov/pubmed/25256405 6 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/2548 2548 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_3536 male IDUA http://identifiers.org/ncbigene/3425 Caucasian Brazilian 3536 Hand X-ray 2021-05-01 16:36:20 UTC 25256405 http://rdf.ncbi.nlm.nih.gov/pubmed/25256405 0 0 "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/2566 2566 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_3565 female ERCC6 http://identifiers.org/ncbigene/2074 African South African 3565 Frontal face 2024-02-01 07:46:10 UTC 26749132 http://rdf.ncbi.nlm.nih.gov/pubmed/26749132 3 6 "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/2566 2566 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_3566 female ERCC6 http://identifiers.org/ncbigene/2074 African South African 3566 Profile 2024-02-01 07:46:21 UTC 26749132 http://rdf.ncbi.nlm.nih.gov/pubmed/26749132 3 6 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2817 2817 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3851 male KMT2A http://identifiers.org/ncbigene/4297 Asian - East Chinese 3851 Frontal face 2022-02-25 18:32:26 UTC 27759909 http://rdf.ncbi.nlm.nih.gov/pubmed/27759909 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2818 2818 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3852 male KMT2A http://identifiers.org/ncbigene/4297 Asian - East Chinese 3852 Frontal face 2022-02-25 18:32:27 UTC 27759909 http://rdf.ncbi.nlm.nih.gov/pubmed/27759909 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2819 2819 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3853 male KMT2A http://identifiers.org/ncbigene/4297 European - Southern Italian 3853 Frontal face 2022-02-25 18:32:30 UTC 27320412 http://rdf.ncbi.nlm.nih.gov/pubmed/27320412 14 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2819 2819 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3854 male KMT2A http://identifiers.org/ncbigene/4297 European - Southern Italian 3854 Profile 2021-04-20 13:43:28 UTC 27320412 http://rdf.ncbi.nlm.nih.gov/pubmed/27320412 14 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2819 2819 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3855 male KMT2A http://identifiers.org/ncbigene/4297 European - Southern Italian 3855 Frontal face 2022-02-25 18:32:31 UTC 27320412 http://rdf.ncbi.nlm.nih.gov/pubmed/27320412 1 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2820 2820 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3856 male KMT2A http://identifiers.org/ncbigene/4297 Asian - East Chinese 3856 Frontal face 2022-02-25 18:32:33 UTC 32311999 http://rdf.ncbi.nlm.nih.gov/pubmed/32311999 1 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2820 2820 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3857 male KMT2A http://identifiers.org/ncbigene/4297 Asian - East Chinese 3857 Frontal face 2022-02-25 18:32:34 UTC 32311999 http://rdf.ncbi.nlm.nih.gov/pubmed/32311999 7 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2825 2825 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3865 female KMT2A http://identifiers.org/ncbigene/4297 European French 3865 Frontal face 2022-02-25 18:32:45 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2825 2825 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3866 female KMT2A http://identifiers.org/ncbigene/4297 European French 3866 Profile 2021-04-20 14:14:02 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2826 2826 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3867 male KMT2A http://identifiers.org/ncbigene/4297 European French 3867 Frontal face 2022-02-25 18:32:48 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2827 2827 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3868 female KMT2A http://identifiers.org/ncbigene/4297 European French 3868 Frontal face 2022-02-25 18:32:49 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2828 2828 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3869 male KMT2A http://identifiers.org/ncbigene/4297 European French 3869 Frontal face 2022-02-25 18:32:52 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2829 2829 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3870 male KMT2A http://identifiers.org/ncbigene/4297 European French 3870 Frontal face 2022-02-25 18:32:53 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2830 2830 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3871 male KMT2A http://identifiers.org/ncbigene/4297 European French 3871 Frontal face 2022-02-25 18:32:56 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2831 2831 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3872 female KMT2A http://identifiers.org/ncbigene/4297 European French 3872 Frontal face 2022-02-25 18:32:57 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2831 2831 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3873 female KMT2A http://identifiers.org/ncbigene/4297 European French 3873 Profile 2021-04-20 14:23:34 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2829 2829 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3874 male KMT2A http://identifiers.org/ncbigene/4297 European French 3874 Profile 2023-01-01 14:37:28 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2828 2828 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3875 male KMT2A http://identifiers.org/ncbigene/4297 European French 3875 Profile 2021-04-20 14:25:31 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2832 2832 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3876 male KMT2A http://identifiers.org/ncbigene/4297 European French 3876 Frontal face 2022-02-25 18:33:00 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2832 2832 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3877 male KMT2A http://identifiers.org/ncbigene/4297 European French 3877 Profile 2023-01-01 14:37:42 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2833 2833 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3878 male KMT2A http://identifiers.org/ncbigene/4297 European French 3878 Frontal face 2022-02-25 18:33:04 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2834 2834 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3879 female KMT2A http://identifiers.org/ncbigene/4297 European French 3879 Frontal face 2022-02-25 18:33:07 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2834 2834 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3880 female KMT2A http://identifiers.org/ncbigene/4297 European French 3880 Profile 2021-04-20 14:30:23 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2835 2835 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3881 female KMT2A http://identifiers.org/ncbigene/4297 European French 3881 Frontal face 2022-02-25 18:33:08 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2835 2835 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3882 female KMT2A http://identifiers.org/ncbigene/4297 European French 3882 Profile 2021-04-20 14:32:09 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2836 2836 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3883 male KMT2A http://identifiers.org/ncbigene/4297 European French 3883 Frontal face 2022-02-25 18:33:11 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2837 2837 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3884 female KMT2A http://identifiers.org/ncbigene/4297 European French 3884 Frontal face 2022-02-25 18:33:12 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2838 2838 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3885 male KMT2A http://identifiers.org/ncbigene/4297 European French 3885 Frontal face 2022-02-25 18:33:14 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2838 2838 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3886 male KMT2A http://identifiers.org/ncbigene/4297 European French 3886 Profile 2021-04-20 14:36:26 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2839 2839 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3887 male KMT2A http://identifiers.org/ncbigene/4297 European French 3887 Frontal face 2022-02-25 18:33:16 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2839 2839 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3888 male KMT2A http://identifiers.org/ncbigene/4297 European French 3888 Profile 2021-04-20 14:38:18 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2840 2840 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3889 female KMT2A http://identifiers.org/ncbigene/4297 European French 3889 Frontal face 2022-02-25 18:33:18 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2840 2840 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3890 female KMT2A http://identifiers.org/ncbigene/4297 European French 3890 Profile 2021-04-20 14:39:50 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2841 2841 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3891 male KMT2A http://identifiers.org/ncbigene/4297 European French 3891 Frontal face 2022-02-25 18:33:19 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2841 2841 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3892 male KMT2A http://identifiers.org/ncbigene/4297 European French 3892 Profile 2021-04-20 14:41:20 UTC 29574747 http://rdf.ncbi.nlm.nih.gov/pubmed/29574747 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2863 2863 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3935 female LMNA http://identifiers.org/ncbigene/4000 European Dutch 3935 Frontal face 2022-02-25 18:34:18 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 0 11 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2863 2863 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3935 female LMNA http://identifiers.org/ncbigene/4000 European Dutch 3935 Frontal face 2022-02-25 18:34:18 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 0 11 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3936 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3936 Frontal face 2022-02-25 18:34:19 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 1 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3936 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3936 Frontal face 2022-02-25 18:34:19 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 1 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3937 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3937 Profile 2021-04-22 13:16:49 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 1 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3937 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3937 Profile 2021-04-22 13:16:49 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 1 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3938 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3938 Frontal face 2022-02-25 18:34:21 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 2 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3938 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3938 Frontal face 2022-02-25 18:34:21 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 2 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3939 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3939 Profile 2021-04-22 13:17:24 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 6 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3939 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3939 Profile 2021-04-22 13:17:24 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 6 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3940 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3940 Frontal face 2022-02-25 18:34:22 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 7 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3940 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3940 Frontal face 2022-02-25 18:34:22 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 7 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3941 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3941 Frontal face 2022-02-25 18:34:25 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 8 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3941 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3941 Frontal face 2022-02-25 18:34:25 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 8 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3942 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3942 Frontal face 2022-02-25 18:34:26 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 10 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3942 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3942 Frontal face 2022-02-25 18:34:26 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 10 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3943 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3943 Frontal face 2022-02-25 18:34:29 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 12 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2864 2864 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3943 male LMNA http://identifiers.org/ncbigene/4000 European Dutch 3943 Frontal face 2022-02-25 18:34:29 UTC 16838330 http://rdf.ncbi.nlm.nih.gov/pubmed/16838330 12 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2882 2882 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3981 male LMNA http://identifiers.org/ncbigene/4000 African togolese 3981 Frontal face 2022-02-25 18:35:25 UTC 32297714 http://rdf.ncbi.nlm.nih.gov/pubmed/32297714 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2882 2882 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3981 male LMNA http://identifiers.org/ncbigene/4000 African togolese 3981 Frontal face 2022-02-25 18:35:25 UTC 32297714 http://rdf.ncbi.nlm.nih.gov/pubmed/32297714 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2882 2882 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3982 male LMNA http://identifiers.org/ncbigene/4000 African togolese 3982 Profile 2021-04-22 14:40:33 UTC 32297714 http://rdf.ncbi.nlm.nih.gov/pubmed/32297714 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2882 2882 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3982 male LMNA http://identifiers.org/ncbigene/4000 African togolese 3982 Profile 2021-04-22 14:40:33 UTC 32297714 http://rdf.ncbi.nlm.nih.gov/pubmed/32297714 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2882 2882 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3983 male LMNA http://identifiers.org/ncbigene/4000 African togolese 3983 Frontal face 2022-02-25 18:35:28 UTC 32297714 http://rdf.ncbi.nlm.nih.gov/pubmed/32297714 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2882 2882 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3983 male LMNA http://identifiers.org/ncbigene/4000 African togolese 3983 Frontal face 2022-02-25 18:35:28 UTC 32297714 http://rdf.ncbi.nlm.nih.gov/pubmed/32297714 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2884 2884 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3986 male LMNA http://identifiers.org/ncbigene/4000 Asian Chinese 3986 Frontal face 2022-02-25 18:35:32 UTC 25371241 http://rdf.ncbi.nlm.nih.gov/pubmed/25371241 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2884 2884 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3986 male LMNA http://identifiers.org/ncbigene/4000 Asian Chinese 3986 Frontal face 2022-02-25 18:35:32 UTC 25371241 http://rdf.ncbi.nlm.nih.gov/pubmed/25371241 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2885 2885 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3987 male LMNA http://identifiers.org/ncbigene/4000 African - North Moroccan 3987 Frontal face 2022-02-25 18:35:33 UTC 21251803 http://rdf.ncbi.nlm.nih.gov/pubmed/21251803 5 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2885 2885 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3987 male LMNA http://identifiers.org/ncbigene/4000 African - North Moroccan 3987 Frontal face 2022-02-25 18:35:33 UTC 21251803 http://rdf.ncbi.nlm.nih.gov/pubmed/21251803 5 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2886 2886 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3988 female LMNA http://identifiers.org/ncbigene/4000 African - North Moroccan 3988 Frontal face 2022-02-25 18:35:35 UTC 21251803 http://rdf.ncbi.nlm.nih.gov/pubmed/21251803 11 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2886 2886 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3988 female LMNA http://identifiers.org/ncbigene/4000 African - North Moroccan 3988 Frontal face 2022-02-25 18:35:35 UTC 21251803 http://rdf.ncbi.nlm.nih.gov/pubmed/21251803 11 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2887 2887 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3989 male LMNA http://identifiers.org/ncbigene/4000 African - North Moroccan 3989 Frontal face 2022-02-25 18:35:37 UTC 21251803 http://rdf.ncbi.nlm.nih.gov/pubmed/21251803 12 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2887 2887 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3989 male LMNA http://identifiers.org/ncbigene/4000 African - North Moroccan 3989 Frontal face 2022-02-25 18:35:37 UTC 21251803 http://rdf.ncbi.nlm.nih.gov/pubmed/21251803 12 0 "" NANDO:1200622 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2909 2909 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_4022 unknown ABHD5 http://identifiers.org/ncbigene/51099 Asian - West/Middle Eastern Turkish 4022 Frontal face 2022-02-25 18:36:24 UTC 24385758 http://rdf.ncbi.nlm.nih.gov/pubmed/24385758 0 0 "" NANDO:2200997 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2909 2909 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_4022 unknown ABHD5 http://identifiers.org/ncbigene/51099 Asian - West/Middle Eastern Turkish 4022 Frontal face 2022-02-25 18:36:24 UTC 24385758 http://rdf.ncbi.nlm.nih.gov/pubmed/24385758 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/2471 2471 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_3360 male ZEB2 http://identifiers.org/ncbigene/9839 Oceanian/Pacific Islander Australian 3360 Frontal face 2022-04-18 21:44:34 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/2471 2471 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_3360 male ZEB2 http://identifiers.org/ncbigene/9839 Oceanian/Pacific Islander Australian 3360 Frontal face 2022-04-18 21:44:34 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/2471 2471 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_3361 male ZEB2 http://identifiers.org/ncbigene/9839 Oceanian/Pacific Islander Australian 3361 Frontal face 2022-04-18 21:44:34 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/2471 2471 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_3361 male ZEB2 http://identifiers.org/ncbigene/9839 Oceanian/Pacific Islander Australian 3361 Frontal face 2022-04-18 21:44:34 UTC 11448942 http://rdf.ncbi.nlm.nih.gov/pubmed/11448942 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2475 2475 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3368 male NSD1 http://identifiers.org/ncbigene/64324 European German 3368 Frontal face 2022-04-18 21:44:34 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/2475 2475 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_3368 male NSD1 http://identifiers.org/ncbigene/64324 European German 3368 Frontal face 2022-04-18 21:44:34 UTC 14571271 http://rdf.ncbi.nlm.nih.gov/pubmed/14571271 "" "" "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2494 2494 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3410 female CHD7 http://identifiers.org/ncbigene/55636 European French 3410 Frontal face 2022-04-18 21:44:34 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 "" "" "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2494 2494 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3410 female CHD7 http://identifiers.org/ncbigene/55636 European French 3410 Frontal face 2022-04-18 21:44:34 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 "" "" "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2495 2495 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3411 male CHD7 http://identifiers.org/ncbigene/55636 European french 3411 Frontal face 2022-04-18 21:44:34 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 "" "" "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2495 2495 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3411 male CHD7 http://identifiers.org/ncbigene/55636 European french 3411 Frontal face 2022-04-18 21:44:34 UTC 17661815 http://rdf.ncbi.nlm.nih.gov/pubmed/17661815 "" "" "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/2505 2505 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_3429 male IDUA http://identifiers.org/ncbigene/3425 European - Southern Italian 3429 Frontal face 2022-04-18 21:44:34 UTC 20026495 http://rdf.ncbi.nlm.nih.gov/pubmed/20026495 "" "" "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/2536 2536 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_3508 male GNPTAB http://identifiers.org/ncbigene/79158 Asian Chinese 3508 Frontal face 2022-04-18 21:44:35 UTC 23773965 http://rdf.ncbi.nlm.nih.gov/pubmed/23773965 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/2536 2536 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_3508 male GNPTAB http://identifiers.org/ncbigene/79158 Asian Chinese 3508 Frontal face 2022-04-18 21:44:35 UTC 23773965 http://rdf.ncbi.nlm.nih.gov/pubmed/23773965 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2559 2559 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3557 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - West/Middle Eastern Turkish 3557 Frontal face 2022-04-18 21:44:35 UTC 26043507 http://rdf.ncbi.nlm.nih.gov/pubmed/26043507 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2559 2559 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3557 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - West/Middle Eastern Turkish 3557 Frontal face 2022-04-18 21:44:35 UTC 26043507 http://rdf.ncbi.nlm.nih.gov/pubmed/26043507 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2560 2560 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3558 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - West/Middle Eastern Turkish 3558 Frontal face 2022-04-18 21:44:35 UTC 26043507 http://rdf.ncbi.nlm.nih.gov/pubmed/26043507 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2560 2560 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3558 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - West/Middle Eastern Turkish 3558 Frontal face 2022-04-18 21:44:35 UTC 26043507 http://rdf.ncbi.nlm.nih.gov/pubmed/26043507 "" "" "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2561 2561 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3559 female LMNA http://identifiers.org/ncbigene/4000 Asian Korean 3559 Frontal face 2022-04-18 21:44:35 UTC 26122271 http://rdf.ncbi.nlm.nih.gov/pubmed/26122271 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2561 2561 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3559 female LMNA http://identifiers.org/ncbigene/4000 Asian Korean 3559 Frontal face 2022-04-18 21:44:35 UTC 26122271 http://rdf.ncbi.nlm.nih.gov/pubmed/26122271 "" "" "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2561 2561 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3560 female LMNA http://identifiers.org/ncbigene/4000 Asian Korean 3560 Frontal face 2022-04-18 21:44:35 UTC 26122271 http://rdf.ncbi.nlm.nih.gov/pubmed/26122271 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2561 2561 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3560 female LMNA http://identifiers.org/ncbigene/4000 Asian Korean 3560 Frontal face 2022-04-18 21:44:35 UTC 26122271 http://rdf.ncbi.nlm.nih.gov/pubmed/26122271 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2480 2480 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_14212 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 14212 Others 2023-10-13 07:03:11 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 15 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2480 2480 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_14212 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 14212 Others 2023-10-13 07:03:11 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 15 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2480 2480 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_14213 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 14213 Profile 2023-10-13 07:03:20 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 15 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2480 2480 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_14213 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 14213 Profile 2023-10-13 07:03:20 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 15 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/2493 2493 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15914 male IDS http://identifiers.org/ncbigene/3423 African "" 15914 Others 2023-10-16 11:22:08 UTC 17616540 http://rdf.ncbi.nlm.nih.gov/pubmed/17616540 0 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/2493 2493 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15914 male IDS http://identifiers.org/ncbigene/3423 African "" 15914 Others 2023-10-16 11:22:08 UTC 17616540 http://rdf.ncbi.nlm.nih.gov/pubmed/17616540 0 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/2493 2493 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_15915 male IDS http://identifiers.org/ncbigene/3423 African "" 15915 Others 2023-10-16 11:22:26 UTC 17616540 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17:08:51 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 10 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2479 2479 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3376 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 3376 Frontal face 2023-04-05 17:08:29 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 10 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2479 2479 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3376 female LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 3376 Frontal face 2023-04-05 17:08:29 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 10 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2479 2479 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3377 female LMNA 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HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3380 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 3380 Profile 2023-10-13 07:02:40 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 15 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2480 2480 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3380 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 3380 Profile 2023-10-13 07:02:40 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 15 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2480 2480 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3381 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 3381 Frontal face 2023-04-05 16:52:25 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 15 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2480 2480 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3381 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 3381 Frontal face 2023-04-05 16:52:25 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 15 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2481 2481 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3383 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 3383 Frontal face 2023-04-05 17:11:25 UTC 15788730 http://rdf.ncbi.nlm.nih.gov/pubmed/15788730 11 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2481 2481 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3383 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 3383 Frontal face 2023-04-05 17:11:25 UTC 15788730 http://rdf.ncbi.nlm.nih.gov/pubmed/15788730 11 0 "" NANDO:1200687 MONDO:0008434 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https://db.gestaltmatcher.org/patients/2483 2483 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3385 male RAI1 http://identifiers.org/ncbigene/10743 European "" 3385 Frontal face 2023-04-06 10:29:34 UTC 15788730 http://rdf.ncbi.nlm.nih.gov/pubmed/15788730 17 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2487 2487 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3394 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 3394 Frontal face 2023-10-13 07:44:36 UTC 17041942 http://rdf.ncbi.nlm.nih.gov/pubmed/17041942 5 8 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2487 2487 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3394 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 3394 Frontal face 2023-10-13 07:44:36 UTC 17041942 http://rdf.ncbi.nlm.nih.gov/pubmed/17041942 5 8 "" NANDO:1200097 MONDO:0010674 OMIM:309900 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https://db.gestaltmatcher.org/patients/2545 2545 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3528 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 3528 Others 2021-05-01 16:35:38 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2545 2545 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3530 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 3530 Limbs 2021-05-01 16:35:47 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2545 2545 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3530 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 3530 Limbs 2021-05-01 16:35:47 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2545 2545 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3531 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 3531 Profile 2021-05-01 16:35:54 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2545 2545 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3531 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 3531 Profile 2021-05-01 16:35:54 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2812 2812 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3846 male KMT2A http://identifiers.org/ncbigene/4297 European "" 3846 Frontal face 2022-02-25 18:32:16 UTC 22795537 http://rdf.ncbi.nlm.nih.gov/pubmed/22795537 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2813 2813 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3847 female KMT2A http://identifiers.org/ncbigene/4297 European "" 3847 Frontal face 2022-02-25 18:32:19 UTC 22795537 http://rdf.ncbi.nlm.nih.gov/pubmed/22795537 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2814 2814 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3848 female KMT2A http://identifiers.org/ncbigene/4297 European "" 3848 Frontal face 2022-02-25 18:32:19 UTC 22795537 http://rdf.ncbi.nlm.nih.gov/pubmed/22795537 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2815 2815 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3849 male KMT2A http://identifiers.org/ncbigene/4297 Asian "" 3849 Frontal face 2022-02-25 18:32:22 UTC 22795537 http://rdf.ncbi.nlm.nih.gov/pubmed/22795537 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2816 2816 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3850 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 3850 Frontal face 2022-02-25 18:32:23 UTC 22795537 http://rdf.ncbi.nlm.nih.gov/pubmed/22795537 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2821 2821 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3858 male KMT2A http://identifiers.org/ncbigene/4297 European "" 3858 Frontal face 2022-02-25 18:32:37 UTC 29203834 http://rdf.ncbi.nlm.nih.gov/pubmed/29203834 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2822 2822 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3859 male KMT2A http://identifiers.org/ncbigene/4297 European "" 3859 Frontal face 2022-02-25 18:32:38 UTC 29203834 http://rdf.ncbi.nlm.nih.gov/pubmed/29203834 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2822 2822 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3860 male KMT2A http://identifiers.org/ncbigene/4297 European "" 3860 Profile 2021-04-20 13:59:18 UTC 29203834 http://rdf.ncbi.nlm.nih.gov/pubmed/29203834 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2823 2823 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3861 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 3861 Frontal face 2022-02-25 18:32:41 UTC 29203834 http://rdf.ncbi.nlm.nih.gov/pubmed/29203834 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2823 2823 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3862 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 3862 Frontal face 2022-02-25 18:32:42 UTC 29203834 http://rdf.ncbi.nlm.nih.gov/pubmed/29203834 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2823 2823 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3863 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 3863 Profile 2021-04-20 14:00:34 UTC 29203834 http://rdf.ncbi.nlm.nih.gov/pubmed/29203834 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/2824 2824 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_3864 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 3864 Frontal face 2022-02-25 18:32:44 UTC 28359930 http://rdf.ncbi.nlm.nih.gov/pubmed/28359930 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2865 2865 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3944 male LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3944 Frontal face 2022-02-25 18:34:30 UTC 28660486 http://rdf.ncbi.nlm.nih.gov/pubmed/28660486 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2865 2865 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3944 male LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3944 Frontal face 2022-02-25 18:34:30 UTC 28660486 http://rdf.ncbi.nlm.nih.gov/pubmed/28660486 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2867 2867 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3946 unknown LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3946 Frontal face 2022-02-25 18:34:32 UTC 20301300 http://rdf.ncbi.nlm.nih.gov/pubmed/20301300 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2867 2867 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3946 unknown LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3946 Frontal face 2022-02-25 18:34:32 UTC 20301300 http://rdf.ncbi.nlm.nih.gov/pubmed/20301300 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2868 2868 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3948 male LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3948 Frontal face 2022-02-25 18:34:36 UTC 18256394 http://rdf.ncbi.nlm.nih.gov/pubmed/18256394 1 9 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2868 2868 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3948 male LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3948 Frontal face 2022-02-25 18:34:36 UTC 18256394 http://rdf.ncbi.nlm.nih.gov/pubmed/18256394 1 9 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2869 2869 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3949 female LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3949 Frontal face 2022-02-25 18:34:37 UTC 18256394 http://rdf.ncbi.nlm.nih.gov/pubmed/18256394 4 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2869 2869 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3949 female LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3949 Frontal face 2022-02-25 18:34:37 UTC 18256394 http://rdf.ncbi.nlm.nih.gov/pubmed/18256394 4 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2871 2871 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3951 male LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3951 Frontal face 2022-02-25 18:34:41 UTC 25556323 http://rdf.ncbi.nlm.nih.gov/pubmed/25556323 0 6 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2871 2871 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3951 male LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3951 Frontal face 2022-02-25 18:34:41 UTC 25556323 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25556323 http://rdf.ncbi.nlm.nih.gov/pubmed/25556323 6 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2871 2871 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3953 male LMNA http://identifiers.org/ncbigene/4000 Caucasian "" 3953 Frontal face 2022-02-25 18:34:44 UTC 25556323 http://rdf.ncbi.nlm.nih.gov/pubmed/25556323 6 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3955 male LMNA http://identifiers.org/ncbigene/4000 European "" 3955 Frontal face 2022-02-25 18:34:48 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 1 5 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3955 male LMNA http://identifiers.org/ncbigene/4000 European "" 3955 Frontal face 2022-02-25 18:34:48 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 1 5 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3956 male LMNA http://identifiers.org/ncbigene/4000 European "" 3956 Profile 2021-04-22 14:07:16 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 0 1 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3956 male LMNA http://identifiers.org/ncbigene/4000 European "" 3956 Profile 2021-04-22 14:07:16 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 0 1 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3957 male LMNA http://identifiers.org/ncbigene/4000 European "" 3957 Frontal face 2022-02-25 18:34:49 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 1 7 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3957 male LMNA http://identifiers.org/ncbigene/4000 European "" 3957 Frontal face 2022-02-25 18:34:49 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 1 7 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3958 male LMNA http://identifiers.org/ncbigene/4000 European "" 3958 Frontal face 2022-02-25 18:34:51 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 2 5 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3958 male LMNA http://identifiers.org/ncbigene/4000 European "" 3958 Frontal face 2022-02-25 18:34:51 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 2 5 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3959 male LMNA http://identifiers.org/ncbigene/4000 European "" 3959 Frontal face 2022-02-25 18:34:52 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 4 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2873 2873 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3959 male LMNA http://identifiers.org/ncbigene/4000 European "" 3959 Frontal face 2022-02-25 18:34:52 UTC 31199775 http://rdf.ncbi.nlm.nih.gov/pubmed/31199775 4 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2874 2874 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3960 male LMNA http://identifiers.org/ncbigene/4000 European "" 3960 Frontal face 2022-02-25 18:34:55 UTC 27334370 http://rdf.ncbi.nlm.nih.gov/pubmed/27334370 1 6 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2874 2874 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3960 male LMNA http://identifiers.org/ncbigene/4000 European "" 3960 Frontal face 2022-02-25 18:34:55 UTC 27334370 http://rdf.ncbi.nlm.nih.gov/pubmed/27334370 1 6 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2875 2875 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3961 unknown LMNA http://identifiers.org/ncbigene/4000 European "" 3961 Frontal face 2022-02-25 18:34:56 UTC 27334370 http://rdf.ncbi.nlm.nih.gov/pubmed/27334370 1 7 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2875 2875 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3961 unknown LMNA http://identifiers.org/ncbigene/4000 European "" 3961 Frontal face 2022-02-25 18:34:56 UTC 27334370 http://rdf.ncbi.nlm.nih.gov/pubmed/27334370 1 7 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2876 2876 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3962 female LMNA http://identifiers.org/ncbigene/4000 European "" 3962 Frontal face 2022-02-25 18:34:58 UTC 27334370 http://rdf.ncbi.nlm.nih.gov/pubmed/27334370 1 3 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2876 2876 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3962 female LMNA http://identifiers.org/ncbigene/4000 European "" 3962 Frontal face 2022-02-25 18:34:58 UTC 27334370 http://rdf.ncbi.nlm.nih.gov/pubmed/27334370 1 3 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2876 2876 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3963 female LMNA http://identifiers.org/ncbigene/4000 European "" 3963 Profile 2021-04-22 14:18:07 UTC 27334370 http://rdf.ncbi.nlm.nih.gov/pubmed/27334370 1 3 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2876 2876 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3963 female LMNA http://identifiers.org/ncbigene/4000 European "" 3963 Profile 2021-04-22 14:18:07 UTC 27334370 http://rdf.ncbi.nlm.nih.gov/pubmed/27334370 1 3 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3964 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3964 Frontal face 2022-02-25 18:35:00 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 0 3 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3964 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3964 Frontal face 2022-02-25 18:35:00 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 0 3 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3965 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3965 Frontal face 2022-02-25 18:35:02 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 1 1 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3965 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3965 Frontal face 2022-02-25 18:35:02 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 1 1 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3966 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3966 Frontal face 2022-02-25 18:35:03 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 3 11 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3966 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3966 Frontal face 2022-02-25 18:35:03 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 3 11 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3967 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3967 Frontal face 2022-02-25 18:35:06 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 6 6 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3967 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3967 Frontal face 2022-02-25 18:35:06 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 6 6 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3968 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3968 Frontal face 2022-02-25 18:35:07 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 9 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2877 2877 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3968 female LMNA http://identifiers.org/ncbigene/4000 Asian "" 3968 Frontal face 2022-02-25 18:35:07 UTC 17908771 http://rdf.ncbi.nlm.nih.gov/pubmed/17908771 9 0 "" NANDO:1200622 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2879 2879 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_3969 male ABHD5 http://identifiers.org/ncbigene/51099 European - Southern "" 3969 Frontal face 2022-02-25 18:35:09 UTC 30457558 http://rdf.ncbi.nlm.nih.gov/pubmed/30457558 0 0 "" NANDO:2200997 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2879 2879 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_3969 male ABHD5 http://identifiers.org/ncbigene/51099 European - Southern "" 3969 Frontal face 2022-02-25 18:35:09 UTC 30457558 http://rdf.ncbi.nlm.nih.gov/pubmed/30457558 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3970 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3970 Frontal face 2022-02-25 18:35:11 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 0 1 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3970 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3970 Frontal face 2022-02-25 18:35:11 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 0 1 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3971 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3971 Frontal face 2022-02-25 18:35:13 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 0 6 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3971 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3971 Frontal face 2022-02-25 18:35:13 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 0 6 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3972 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3972 Frontal face 2022-02-25 18:35:14 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 5 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3972 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3972 Frontal face 2022-02-25 18:35:14 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 5 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3973 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3973 Frontal face 2022-02-25 18:35:17 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 6 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3973 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3973 Frontal face 2022-02-25 18:35:17 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 6 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3974 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3974 Frontal face 2022-02-25 18:35:18 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 7 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3974 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3974 Frontal face 2022-02-25 18:35:18 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 7 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3975 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3975 Frontal face 2022-02-25 18:35:21 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 13 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3975 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3975 Frontal face 2022-02-25 18:35:21 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 13 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3976 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3976 Frontal face 2022-02-25 18:35:22 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 14 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2878 2878 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3976 female LMNA http://identifiers.org/ncbigene/4000 American - Latin/Hispanic "" 3976 Frontal face 2022-02-25 18:35:22 UTC 32943904 http://rdf.ncbi.nlm.nih.gov/pubmed/32943904 14 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2880 2880 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3977 female LMNA http://identifiers.org/ncbigene/4000 Unknown "" 3977 Frontal face 2022-02-25 18:35:24 UTC 29377371 http://rdf.ncbi.nlm.nih.gov/pubmed/29377371 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2880 2880 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3977 female LMNA http://identifiers.org/ncbigene/4000 Unknown "" 3977 Frontal face 2022-02-25 18:35:24 UTC 29377371 http://rdf.ncbi.nlm.nih.gov/pubmed/29377371 0 0 "" NANDO:1200622 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2881 2881 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_3979 unknown ABHD5 http://identifiers.org/ncbigene/51099 Asian - South/Indian "" 3979 Others 2021-04-22 14:37:57 UTC 27858988 http://rdf.ncbi.nlm.nih.gov/pubmed/27858988 0 0 "" NANDO:2200997 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2881 2881 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_3979 unknown ABHD5 http://identifiers.org/ncbigene/51099 Asian - South/Indian "" 3979 Others 2021-04-22 14:37:57 UTC 27858988 http://rdf.ncbi.nlm.nih.gov/pubmed/27858988 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2883 2883 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3984 male LMNA http://identifiers.org/ncbigene/4000 Asian "" 3984 Frontal face 2022-02-25 18:35:29 UTC 22148005 http://rdf.ncbi.nlm.nih.gov/pubmed/22148005 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2883 2883 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3984 male LMNA http://identifiers.org/ncbigene/4000 Asian "" 3984 Frontal face 2022-02-25 18:35:29 UTC 22148005 http://rdf.ncbi.nlm.nih.gov/pubmed/22148005 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2883 2883 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3985 male LMNA http://identifiers.org/ncbigene/4000 Asian "" 3985 Profile 2021-04-22 14:58:56 UTC 22148005 http://rdf.ncbi.nlm.nih.gov/pubmed/22148005 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2883 2883 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3985 male LMNA http://identifiers.org/ncbigene/4000 Asian "" 3985 Profile 2021-04-22 14:58:56 UTC 22148005 http://rdf.ncbi.nlm.nih.gov/pubmed/22148005 0 0 "" NANDO:1200622 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2908 2908 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_4021 male ABHD5 http://identifiers.org/ncbigene/51099 European - Southern "" 4021 Frontal face 2022-02-25 18:36:21 UTC 25682902 http://rdf.ncbi.nlm.nih.gov/pubmed/25682902 0 0 "" NANDO:2200997 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2908 2908 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_4021 male ABHD5 http://identifiers.org/ncbigene/51099 European - Southern "" 4021 Frontal face 2022-02-25 18:36:21 UTC 25682902 http://rdf.ncbi.nlm.nih.gov/pubmed/25682902 0 0 "" NANDO:1200622 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2910 2910 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_4023 female ABHD5 http://identifiers.org/ncbigene/51099 European - Southern "" 4023 Frontal face 2022-02-25 18:36:25 UTC 25087691 http://rdf.ncbi.nlm.nih.gov/pubmed/25087691 0 0 "" NANDO:2200997 MONDO:0010155 OMIM:275630 https://db.gestaltmatcher.org/patients/2910 2910 CHANARIN-DORFMAN SYNDROME https://db.gestaltmatcher.org/patients/image_4023 female ABHD5 http://identifiers.org/ncbigene/51099 European - Southern "" 4023 Frontal face 2022-02-25 18:36:25 UTC 25087691 http://rdf.ncbi.nlm.nih.gov/pubmed/25087691 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2911 2911 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4024 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4024 Frontal face 2022-02-25 18:36:28 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2911 2911 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4024 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4024 Frontal face 2022-02-25 18:36:28 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2911 2911 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4025 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4025 Profile 2021-04-23 16:20:23 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2911 2911 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4025 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4025 Profile 2021-04-23 16:20:23 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2914 2914 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4029 female EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4029 Frontal face 2022-02-25 18:36:33 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2914 2914 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4029 female EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4029 Frontal face 2022-02-25 18:36:33 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2915 2915 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4030 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4030 Frontal face 2022-02-25 18:36:35 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2915 2915 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4030 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4030 Frontal face 2022-02-25 18:36:35 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2916 2916 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4031 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4031 Frontal face 2022-02-25 18:36:37 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2916 2916 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4031 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4031 Frontal face 2022-02-25 18:36:37 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2917 2917 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4032 unknown EZH2 http://identifiers.org/ncbigene/2146 Asian "" 4032 Frontal face 2022-02-25 18:36:39 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2917 2917 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4032 unknown EZH2 http://identifiers.org/ncbigene/2146 Asian "" 4032 Frontal face 2022-02-25 18:36:39 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2918 2918 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4033 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4033 Frontal face 2022-02-25 18:36:40 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2918 2918 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4033 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4033 Frontal face 2022-02-25 18:36:40 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2919 2919 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4034 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4034 Frontal face 2022-02-25 18:36:43 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2919 2919 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4034 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4034 Frontal face 2022-02-25 18:36:43 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2920 2920 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4035 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4035 Frontal face 2022-02-25 18:36:44 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2920 2920 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4035 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4035 Frontal face 2022-02-25 18:36:44 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2921 2921 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4036 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4036 Frontal face 2022-02-25 18:36:47 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2921 2921 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4036 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4036 Frontal face 2022-02-25 18:36:47 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2922 2922 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4037 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4037 Frontal face 2022-02-25 18:36:48 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2922 2922 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4037 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4037 Frontal face 2022-02-25 18:36:48 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2923 2923 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4038 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4038 Frontal face 2022-02-25 18:36:50 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2923 2923 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4038 unknown EZH2 http://identifiers.org/ncbigene/2146 Caucasian "" 4038 Frontal face 2022-02-25 18:36:50 UTC 24214728 http://rdf.ncbi.nlm.nih.gov/pubmed/24214728 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4040 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4040 Profile 2021-05-01 16:44:15 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 1 6 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4040 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4040 Profile 2021-05-01 16:44:15 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 1 6 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4041 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4041 Frontal face 2022-02-25 18:36:54 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 6 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4041 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4041 Frontal face 2022-02-25 18:36:54 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 6 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4042 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4042 Frontal face 2022-02-25 18:36:55 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 11 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4042 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4042 Frontal face 2022-02-25 18:36:55 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 11 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4043 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4043 Frontal face 2022-02-25 18:36:58 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 17 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4043 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4043 Frontal face 2022-02-25 18:36:58 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 17 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4044 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4044 Frontal face 2022-02-25 18:36:59 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 21 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4044 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4044 Frontal face 2022-02-25 18:36:59 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 21 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4045 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4045 Frontal face 2022-02-25 18:37:02 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 30 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4045 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4045 Frontal face 2022-02-25 18:37:02 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 30 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4046 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4046 Profile 2021-04-23 16:59:24 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 30 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2925 2925 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4046 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4046 Profile 2021-04-23 16:59:24 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 30 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2926 2926 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4047 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4047 Frontal face 2022-02-25 18:37:03 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 7 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2926 2926 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4047 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4047 Frontal face 2022-02-25 18:37:03 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 7 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2926 2926 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4048 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4048 Frontal face 2022-02-25 18:37:05 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 13 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2926 2926 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4048 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4048 Frontal face 2022-02-25 18:37:05 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 13 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2926 2926 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4049 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4049 Profile 2021-04-23 17:03:55 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 13 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2926 2926 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4049 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4049 Profile 2021-04-23 17:03:55 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 13 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4050 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4050 Frontal face 2022-02-25 18:37:07 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4050 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4050 Frontal face 2022-02-25 18:37:07 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4051 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4051 Frontal face 2022-02-25 18:37:09 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 1 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4051 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4051 Frontal face 2022-02-25 18:37:09 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 1 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4052 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4052 Frontal face 2022-02-25 18:37:10 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 2 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4052 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4052 Frontal face 2022-02-25 18:37:10 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 2 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4053 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4053 Frontal face 2022-02-25 18:37:13 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 3 5 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4053 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4053 Frontal face 2022-02-25 18:37:13 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 3 5 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4054 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4054 Frontal face 2022-02-25 18:37:14 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 6 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4054 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4054 Frontal face 2022-02-25 18:37:14 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 6 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4055 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4055 Frontal face 2022-02-25 18:37:17 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 11 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4055 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4055 Frontal face 2022-02-25 18:37:17 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 11 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4056 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4056 Frontal face 2022-02-25 18:37:18 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 16 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4056 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4056 Frontal face 2022-02-25 18:37:18 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 16 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4057 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4057 Frontal face 2022-02-25 18:37:20 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 19 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4057 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4057 Frontal face 2022-02-25 18:37:20 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 19 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4058 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4058 Frontal face 2022-02-25 18:37:21 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 8 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2927 2927 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4058 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4058 Frontal face 2022-02-25 18:37:21 UTC 22177091 http://rdf.ncbi.nlm.nih.gov/pubmed/22177091 8 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4059 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4059 Frontal face 2022-02-25 18:37:24 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 0 2 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4059 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4059 Frontal face 2022-02-25 18:37:24 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 0 2 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4060 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4060 Frontal face 2022-02-25 18:37:25 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 0 4 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4060 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4060 Frontal face 2022-02-25 18:37:25 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 0 4 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4061 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4061 Frontal face 2022-02-25 18:37:28 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 0 6 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4061 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4061 Frontal face 2022-02-25 18:37:28 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 0 6 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4062 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4062 Frontal face 2022-02-25 18:37:29 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 0 8 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4062 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4062 Frontal face 2022-02-25 18:37:29 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 0 8 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4063 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4063 Frontal face 2022-02-25 18:37:31 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 1 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4063 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4063 Frontal face 2022-02-25 18:37:31 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 1 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2480 2480 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3382 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 3382 Frontal face 2022-04-18 21:44:34 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 "" "" "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2480 2480 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3382 male LMNA http://identifiers.org/ncbigene/4000 Asian - South/Indian "" 3382 Frontal face 2022-04-18 21:44:34 UTC 15286156 http://rdf.ncbi.nlm.nih.gov/pubmed/15286156 "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/2485 2485 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_3389 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 3389 Frontal face 2022-04-18 21:44:34 UTC 16088920 http://rdf.ncbi.nlm.nih.gov/pubmed/16088920 "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/2485 2485 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_3389 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 3389 Frontal face 2022-04-18 21:44:34 UTC 16088920 http://rdf.ncbi.nlm.nih.gov/pubmed/16088920 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/2493 2493 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_3409 male IDS http://identifiers.org/ncbigene/3423 African "" 3409 Frontal face 2022-04-18 21:44:34 UTC 17616540 http://rdf.ncbi.nlm.nih.gov/pubmed/17616540 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/2493 2493 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_3409 male IDS http://identifiers.org/ncbigene/3423 African "" 3409 Frontal face 2022-04-18 21:44:34 UTC 17616540 http://rdf.ncbi.nlm.nih.gov/pubmed/17616540 "" "" "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2517 2517 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3457 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 3457 Frontal face 2022-04-18 21:44:34 UTC 21857958 http://rdf.ncbi.nlm.nih.gov/pubmed/21857958 "" "" "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2517 2517 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3457 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 3457 Frontal face 2022-04-18 21:44:34 UTC 21857958 http://rdf.ncbi.nlm.nih.gov/pubmed/21857958 "" "" "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2518 2518 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3458 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 3458 Frontal face 2022-04-18 21:44:34 UTC 21857958 http://rdf.ncbi.nlm.nih.gov/pubmed/21857958 "" "" "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2518 2518 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3458 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 3458 Frontal face 2022-04-18 21:44:34 UTC 21857958 http://rdf.ncbi.nlm.nih.gov/pubmed/21857958 "" "" "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2543 2543 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3525 male RAI1 http://identifiers.org/ncbigene/10743 European "" 3525 Frontal face 2022-04-18 21:44:35 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 "" "" "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2543 2543 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3525 male RAI1 http://identifiers.org/ncbigene/10743 European "" 3525 Frontal face 2022-04-18 21:44:35 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 "" "" "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2544 2544 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3526 male RAI1 http://identifiers.org/ncbigene/10743 European "" 3526 Frontal face 2022-04-18 21:44:35 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 "" "" "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2544 2544 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3526 male RAI1 http://identifiers.org/ncbigene/10743 European "" 3526 Frontal face 2022-04-18 21:44:35 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 "" "" "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2544 2544 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3527 male RAI1 http://identifiers.org/ncbigene/10743 European "" 3527 Frontal face 2022-04-18 21:44:35 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 "" "" "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/2544 2544 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_3527 male RAI1 http://identifiers.org/ncbigene/10743 European "" 3527 Frontal face 2022-04-18 21:44:35 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2545 2545 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3529 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 3529 Frontal face 2022-04-18 21:44:35 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2545 2545 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3529 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 3529 Frontal face 2022-04-18 21:44:35 UTC 25044551 http://rdf.ncbi.nlm.nih.gov/pubmed/25044551 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2546 2546 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3532 female RPS6KA3 http://identifiers.org/ncbigene/6197 American - African/Black "" 3532 Frontal face 2022-04-18 21:44:35 UTC 25118007 http://rdf.ncbi.nlm.nih.gov/pubmed/25118007 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2546 2546 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3532 female RPS6KA3 http://identifiers.org/ncbigene/6197 American - African/Black "" 3532 Frontal face 2022-04-18 21:44:35 UTC 25118007 http://rdf.ncbi.nlm.nih.gov/pubmed/25118007 "" "" "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2547 2547 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3533 female RPS6KA3 http://identifiers.org/ncbigene/6197 American - African/Black "" 3533 Frontal face 2022-04-18 21:44:35 UTC 25118007 http://rdf.ncbi.nlm.nih.gov/pubmed/25118007 "" "" "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/2547 2547 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_3533 female RPS6KA3 http://identifiers.org/ncbigene/6197 American - African/Black "" 3533 Frontal face 2022-04-18 21:44:35 UTC 25118007 http://rdf.ncbi.nlm.nih.gov/pubmed/25118007 "" "" "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/2417 2417 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_3271 male FLNB http://identifiers.org/ncbigene/2317 "" "" 3271 Profile 2021-05-01 16:12:38 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 0 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3398 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3398 Frontal face 2023-10-16 07:44:01 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 10 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3398 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3398 Frontal face 2023-10-16 07:44:01 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 10 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3399 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3399 Profile 2023-10-16 07:44:11 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 10 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3399 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3399 Profile 2023-10-16 07:44:11 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 10 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3400 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3400 Others 2023-10-16 07:44:53 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 10 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3400 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3400 Others 2023-10-16 07:44:53 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 10 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3401 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3401 Others 2023-10-16 07:45:07 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 10 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3401 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3401 Others 2023-10-16 07:45:07 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 10 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3402 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3402 Frontal face 2023-10-16 07:44:29 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 3 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2491 2491 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3402 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3402 Frontal face 2023-10-16 07:44:29 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 3 0 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3403 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3403 Frontal face 2023-10-16 11:18:00 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 9 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3403 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3403 Frontal face 2023-10-16 11:18:00 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 9 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3404 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3404 Others 2023-10-16 11:19:05 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 9 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3404 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3404 Others 2023-10-16 11:19:05 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 0 9 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3405 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3405 Frontal face 2023-10-16 11:18:23 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 5 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3405 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3405 Frontal face 2023-10-16 11:18:23 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 5 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3406 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3406 Frontal face 2023-10-16 11:17:40 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 1 6 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3406 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3406 Frontal face 2023-10-16 11:17:40 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 1 6 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3407 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3407 Frontal face 2023-10-16 11:18:45 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 1 6 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/2492 2492 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_3407 female LMNA http://identifiers.org/ncbigene/4000 "" "" 3407 Frontal face 2023-10-16 11:18:45 UTC 17459035 http://rdf.ncbi.nlm.nih.gov/pubmed/17459035 1 6 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2496 2496 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3412 male CHD7 http://identifiers.org/ncbigene/55636 "" "" 3412 Frontal face 2023-10-16 14:19:28 UTC 18074359 http://rdf.ncbi.nlm.nih.gov/pubmed/18074359 7 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2496 2496 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3412 male CHD7 http://identifiers.org/ncbigene/55636 "" "" 3412 Frontal face 2023-10-16 14:19:28 UTC 18074359 http://rdf.ncbi.nlm.nih.gov/pubmed/18074359 7 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2497 2497 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3413 male CHD7 http://identifiers.org/ncbigene/55636 "" "" 3413 Frontal face 2023-10-16 14:19:07 UTC 18074359 http://rdf.ncbi.nlm.nih.gov/pubmed/18074359 4 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2497 2497 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3413 male CHD7 http://identifiers.org/ncbigene/55636 "" "" 3413 Frontal face 2023-10-16 14:19:07 UTC 18074359 http://rdf.ncbi.nlm.nih.gov/pubmed/18074359 4 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2498 2498 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3414 male CHD7 http://identifiers.org/ncbigene/55636 "" "" 3414 Frontal face 2023-10-16 14:18:51 UTC 18074359 http://rdf.ncbi.nlm.nih.gov/pubmed/18074359 2 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/2498 2498 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_3414 male CHD7 http://identifiers.org/ncbigene/55636 "" "" 3414 Frontal face 2023-10-16 14:18:51 UTC 18074359 http://rdf.ncbi.nlm.nih.gov/pubmed/18074359 2 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/2416 2416 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_3270 female FLNB http://identifiers.org/ncbigene/2317 "" "" 3270 Frontal face 2022-04-18 21:44:34 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 "" "" "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/2418 2418 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_3273 male FLNB http://identifiers.org/ncbigene/2317 "" "" 3273 Frontal face 2022-04-18 21:44:34 UTC 16801345 http://rdf.ncbi.nlm.nih.gov/pubmed/16801345 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/2488 2488 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_3395 male HRAS http://identifiers.org/ncbigene/3265 "" "" 3395 Frontal face 2022-04-18 21:44:34 UTC 17054105 http://rdf.ncbi.nlm.nih.gov/pubmed/17054105 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/2488 2488 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_3395 male HRAS http://identifiers.org/ncbigene/3265 "" "" 3395 Frontal face 2022-04-18 21:44:34 UTC 17054105 http://rdf.ncbi.nlm.nih.gov/pubmed/17054105 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/2489 2489 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_3396 male HRAS http://identifiers.org/ncbigene/3265 "" "" 3396 Frontal face 2022-04-18 21:44:34 UTC 17054105 http://rdf.ncbi.nlm.nih.gov/pubmed/17054105 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/2489 2489 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_3396 male HRAS http://identifiers.org/ncbigene/3265 "" "" 3396 Frontal face 2022-04-18 21:44:34 UTC 17054105 http://rdf.ncbi.nlm.nih.gov/pubmed/17054105 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/2490 2490 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_3397 male HRAS http://identifiers.org/ncbigene/3265 "" "" 3397 Frontal face 2022-04-18 21:44:34 UTC 17054105 http://rdf.ncbi.nlm.nih.gov/pubmed/17054105 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/2490 2490 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_3397 male HRAS http://identifiers.org/ncbigene/3265 "" "" 3397 Frontal face 2022-04-18 21:44:34 UTC 17054105 http://rdf.ncbi.nlm.nih.gov/pubmed/17054105 "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/24 24 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_30 female "" "" "" African-American 30 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/24 24 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_30 female "" "" "" African-American 30 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 13 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/25 25 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_31 male "" "" "" African-American 31 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/25 25 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_31 male "" "" "" African-American 31 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/26 26 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_32 female "" "" "" African-American 32 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 15 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/26 26 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_32 female "" "" "" African-American 32 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 15 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/27 27 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_33 female "" "" "" African-American 33 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 35 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/27 27 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_33 female "" "" "" African-American 33 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 35 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/28 28 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_34 male "" "" "" African (Bahrainian) 34 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 4 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/28 28 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_34 male "" "" "" African (Bahrainian) 34 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 4 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/260 260 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_341 male "" "" "" Caucasian 341 Frontal face 2022-02-25 16:12:48 UTC 7507295 http://rdf.ncbi.nlm.nih.gov/pubmed/7507295 10 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/260 260 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_341 male "" "" "" Caucasian 341 Frontal face 2022-02-25 16:12:48 UTC 7507295 http://rdf.ncbi.nlm.nih.gov/pubmed/7507295 10 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/260 260 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_342 male "" "" "" Caucasian 342 Profile 2021-05-08 15:57:08 UTC 7507295 http://rdf.ncbi.nlm.nih.gov/pubmed/7507295 10 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/260 260 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_342 male "" "" "" Caucasian 342 Profile 2021-05-08 15:57:08 UTC 7507295 http://rdf.ncbi.nlm.nih.gov/pubmed/7507295 10 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/260 260 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_343 male "" "" "" Caucasian 343 Profile 2021-05-08 15:57:15 UTC 7507295 http://rdf.ncbi.nlm.nih.gov/pubmed/7507295 10 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/260 260 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_343 male "" "" "" Caucasian 343 Profile 2021-05-08 15:57:15 UTC 7507295 http://rdf.ncbi.nlm.nih.gov/pubmed/7507295 10 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/28 28 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_35 male "" "" "" African (Bahrainian) 35 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 4 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/28 28 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_35 male "" "" "" African (Bahrainian) 35 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 4 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4071 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4071 Frontal face 2022-02-25 18:37:43 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 6 5 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4071 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4071 Frontal face 2022-02-25 18:37:43 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 6 5 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4072 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4072 Profile 2021-04-23 18:16:12 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 6 5 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4072 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4072 Profile 2021-04-23 18:16:12 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 6 5 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4073 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4073 Frontal face 2022-02-25 18:37:46 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 11 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4073 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4073 Frontal face 2022-02-25 18:37:46 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 11 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4074 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4074 Frontal face 2022-02-25 18:37:47 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 0 3 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4074 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4074 Frontal face 2022-02-25 18:37:47 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 0 3 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4075 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4075 Frontal face 2022-02-25 18:37:50 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 2 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4075 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4075 Frontal face 2022-02-25 18:37:50 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 2 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4076 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4076 Frontal face 2022-02-25 18:37:51 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 3 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4076 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4076 Frontal face 2022-02-25 18:37:51 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 3 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4077 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4077 Frontal face 2022-02-25 18:37:54 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 4 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2932 2932 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4077 male EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern British 4077 Frontal face 2022-02-25 18:37:54 UTC 28696078 http://rdf.ncbi.nlm.nih.gov/pubmed/28696078 4 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2933 2933 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4078 male EZH2 http://identifiers.org/ncbigene/2146 Arab Turkish 4078 Frontal face 2022-02-25 18:37:55 UTC 33788986 http://rdf.ncbi.nlm.nih.gov/pubmed/33788986 13 5 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2933 2933 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4078 male EZH2 http://identifiers.org/ncbigene/2146 Arab Turkish 4078 Frontal face 2022-02-25 18:37:55 UTC 33788986 http://rdf.ncbi.nlm.nih.gov/pubmed/33788986 13 5 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2933 2933 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4079 male EZH2 http://identifiers.org/ncbigene/2146 Arab Turkish 4079 Profile 2021-04-23 18:39:05 UTC 33788986 http://rdf.ncbi.nlm.nih.gov/pubmed/33788986 13 5 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2933 2933 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4079 male EZH2 http://identifiers.org/ncbigene/2146 Arab Turkish 4079 Profile 2021-04-23 18:39:05 UTC 33788986 http://rdf.ncbi.nlm.nih.gov/pubmed/33788986 13 5 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4064 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4064 Frontal face 2022-02-25 18:37:32 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 1 7 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4064 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4064 Frontal face 2022-02-25 18:37:32 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 1 7 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4065 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4065 Frontal face 2022-02-25 18:37:35 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 2 3 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4065 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4065 Frontal face 2022-02-25 18:37:35 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 2 3 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4066 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4066 Profile 2021-04-23 17:32:22 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 2 3 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4066 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4066 Profile 2021-04-23 17:32:22 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 2 3 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4067 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4067 Frontal face 2022-02-25 18:37:36 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 2 7 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2928 2928 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4067 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4067 Frontal face 2022-02-25 18:37:36 UTC 26694085 http://rdf.ncbi.nlm.nih.gov/pubmed/26694085 2 7 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2929 2929 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4068 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4068 Frontal face 2022-02-25 18:37:39 UTC 23592277 http://rdf.ncbi.nlm.nih.gov/pubmed/23592277 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2929 2929 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4068 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4068 Frontal face 2022-02-25 18:37:39 UTC 23592277 http://rdf.ncbi.nlm.nih.gov/pubmed/23592277 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2930 2930 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4069 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4069 Frontal face 2022-02-25 18:37:40 UTC 23592277 http://rdf.ncbi.nlm.nih.gov/pubmed/23592277 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2930 2930 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4069 female EZH2 http://identifiers.org/ncbigene/2146 European "" 4069 Frontal face 2022-02-25 18:37:40 UTC 23592277 http://rdf.ncbi.nlm.nih.gov/pubmed/23592277 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2931 2931 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4070 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4070 Frontal face 2022-02-25 18:37:43 UTC 23592277 http://rdf.ncbi.nlm.nih.gov/pubmed/23592277 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2931 2931 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4070 male EZH2 http://identifiers.org/ncbigene/2146 European "" 4070 Frontal face 2022-02-25 18:37:43 UTC 23592277 http://rdf.ncbi.nlm.nih.gov/pubmed/23592277 0 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2934 2934 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4080 male EZH2 http://identifiers.org/ncbigene/2146 Arab "" 4080 Frontal face 2022-02-25 18:37:58 UTC 23239504 http://rdf.ncbi.nlm.nih.gov/pubmed/23239504 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2934 2934 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4080 male EZH2 http://identifiers.org/ncbigene/2146 Arab "" 4080 Frontal face 2022-02-25 18:37:58 UTC 23239504 http://rdf.ncbi.nlm.nih.gov/pubmed/23239504 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2935 2935 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4081 female EZH2 http://identifiers.org/ncbigene/2146 Unknown "" 4081 Frontal face 2022-02-25 18:37:59 UTC 1956726 http://rdf.ncbi.nlm.nih.gov/pubmed/1956726 1 2 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2935 2935 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4081 female EZH2 http://identifiers.org/ncbigene/2146 Unknown "" 4081 Frontal face 2022-02-25 18:37:59 UTC 1956726 http://rdf.ncbi.nlm.nih.gov/pubmed/1956726 1 2 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2935 2935 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4082 female EZH2 http://identifiers.org/ncbigene/2146 Unknown "" 4082 Profile 2021-04-23 18:55:40 UTC 1956726 http://rdf.ncbi.nlm.nih.gov/pubmed/1956726 1 2 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2935 2935 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4082 female EZH2 http://identifiers.org/ncbigene/2146 Unknown "" 4082 Profile 2021-04-23 18:55:40 UTC 1956726 http://rdf.ncbi.nlm.nih.gov/pubmed/1956726 1 2 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2935 2935 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4083 female EZH2 http://identifiers.org/ncbigene/2146 Unknown "" 4083 Frontal face 2022-02-25 18:38:02 UTC 1956726 http://rdf.ncbi.nlm.nih.gov/pubmed/1956726 1 2 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/2935 2935 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_4083 female EZH2 http://identifiers.org/ncbigene/2146 Unknown "" 4083 Frontal face 2022-02-25 18:38:02 UTC 1956726 http://rdf.ncbi.nlm.nih.gov/pubmed/1956726 1 2 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3445 3445 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4773 female DHCR7 http://identifiers.org/ncbigene/1717 European Austrian 4773 Frontal face 2024-01-13 16:03:12 UTC 11078571 http://rdf.ncbi.nlm.nih.gov/pubmed/11078571 0 0 new-born NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3445 3445 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4773 female DHCR7 http://identifiers.org/ncbigene/1717 European Austrian 4773 Frontal face 2024-01-13 16:03:12 UTC 11078571 http://rdf.ncbi.nlm.nih.gov/pubmed/11078571 0 0 new-born NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_11701 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11701 Frontal face 2022-08-30 05:30:50 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 6 2 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_11701 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11701 Frontal face 2022-08-30 05:30:50 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 6 2 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/355 355 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_11701 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11701 Frontal face 2022-08-30 05:30:50 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 6 2 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_11702 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11702 Profile 2022-08-30 05:30:59 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 6 2 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_11702 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11702 Profile 2022-08-30 05:30:59 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 6 2 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/355 355 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_11702 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11702 Profile 2022-08-30 05:30:59 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 6 2 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_11703 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11703 Frontal face 2022-08-30 05:31:08 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 12 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_11703 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11703 Frontal face 2022-08-30 05:31:08 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 12 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/355 355 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_11703 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11703 Frontal face 2022-08-30 05:31:08 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 12 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_11704 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11704 Profile 2022-08-30 05:31:15 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 12 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_11704 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11704 Profile 2022-08-30 05:31:15 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 12 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/355 355 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_11704 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 11704 Profile 2022-08-30 05:31:15 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 12 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3046 3046 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4239 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4239 Frontal face 2022-02-25 18:41:58 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3046 3046 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4239 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4239 Frontal face 2022-02-25 18:41:58 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3045 3045 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4240 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4240 Frontal face 2023-09-01 16:22:51 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 36 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3045 3045 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4240 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4240 Frontal face 2023-09-01 16:22:51 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 36 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3052 3052 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4241 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4241 Frontal face 2023-09-01 16:55:30 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 3 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3052 3052 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4241 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4241 Frontal face 2023-09-01 16:55:30 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 3 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3053 3053 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4242 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4242 Frontal face 2023-09-01 16:57:51 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 19 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3053 3053 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4242 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4242 Frontal face 2023-09-01 16:57:51 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 19 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3047 3047 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4243 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4243 Frontal face 2023-09-01 16:33:52 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 42 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3047 3047 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4243 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4243 Frontal face 2023-09-01 16:33:52 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 42 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3048 3048 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4244 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4244 Frontal face 2023-09-01 16:39:14 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 2 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3048 3048 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4244 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4244 Frontal face 2023-09-01 16:39:14 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 2 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3049 3049 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4245 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4245 Frontal face 2022-02-25 18:42:09 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3049 3049 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4245 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4245 Frontal face 2022-02-25 18:42:09 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3050 3050 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4246 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4246 Frontal face 2022-02-25 18:42:10 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3050 3050 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4246 male RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4246 Frontal face 2022-02-25 18:42:10 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3051 3051 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4247 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4247 Frontal face 2022-02-25 18:42:13 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 0 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3051 3051 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4247 female RPS6KA3 http://identifiers.org/ncbigene/6197 Asian - East Chinese 4247 Frontal face 2022-02-25 18:42:13 UTC 31400053 http://rdf.ncbi.nlm.nih.gov/pubmed/31400053 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3125 3125 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4326 male NBN http://identifiers.org/ncbigene/4683 European - Eastern Polish 4326 Frontal face 2022-02-25 18:44:21 UTC 30209074 http://rdf.ncbi.nlm.nih.gov/pubmed/30209074 4 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3125 3125 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4326 male NBN http://identifiers.org/ncbigene/4683 European - Eastern Polish 4326 Frontal face 2022-02-25 18:44:21 UTC 30209074 http://rdf.ncbi.nlm.nih.gov/pubmed/30209074 4 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3130 3130 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4332 female NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkish (Anatolia) 4332 Frontal face 2022-02-25 18:44:31 UTC 17062486 http://rdf.ncbi.nlm.nih.gov/pubmed/17062486 8 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3130 3130 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4332 female NBN http://identifiers.org/ncbigene/4683 Asian - West/Middle Eastern Turkish (Anatolia) 4332 Frontal face 2022-02-25 18:44:31 UTC 17062486 http://rdf.ncbi.nlm.nih.gov/pubmed/17062486 8 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3131 3131 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4333 male NBN http://identifiers.org/ncbigene/4683 European - Southern Italian 4333 Frontal face 2022-02-25 18:44:32 UTC 10742414 http://rdf.ncbi.nlm.nih.gov/pubmed/10742414 6 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3131 3131 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4333 male NBN http://identifiers.org/ncbigene/4683 European - Southern Italian 4333 Frontal face 2022-02-25 18:44:32 UTC 10742414 http://rdf.ncbi.nlm.nih.gov/pubmed/10742414 6 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3131 3131 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4334 male NBN http://identifiers.org/ncbigene/4683 European - Southern Italian 4334 Profile 2021-04-28 19:58:00 UTC 10742414 http://rdf.ncbi.nlm.nih.gov/pubmed/10742414 6 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3131 3131 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4334 male NBN http://identifiers.org/ncbigene/4683 European - Southern Italian 4334 Profile 2021-04-28 19:58:00 UTC 10742414 http://rdf.ncbi.nlm.nih.gov/pubmed/10742414 6 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3132 3132 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4335 male NBN http://identifiers.org/ncbigene/4683 European dutch 4335 Frontal face 2022-02-25 18:44:35 UTC 2786340 http://rdf.ncbi.nlm.nih.gov/pubmed/2786340 2 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3132 3132 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4335 male NBN http://identifiers.org/ncbigene/4683 European dutch 4335 Frontal face 2022-02-25 18:44:35 UTC 2786340 http://rdf.ncbi.nlm.nih.gov/pubmed/2786340 2 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3133 3133 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4336 male NBN http://identifiers.org/ncbigene/4683 European Scottish/Irish/English/Czechoslovakian 4336 Frontal face 2023-09-12 15:34:21 UTC 12621246 http://rdf.ncbi.nlm.nih.gov/pubmed/12621246 3 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3133 3133 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4336 male NBN http://identifiers.org/ncbigene/4683 European Scottish/Irish/English/Czechoslovakian 4336 Frontal face 2023-09-12 15:34:21 UTC 12621246 http://rdf.ncbi.nlm.nih.gov/pubmed/12621246 3 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3135 3135 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4339 female NBN http://identifiers.org/ncbigene/4683 Caucasian Russia 4339 Frontal face 2022-02-25 18:44:40 UTC 11953735 http://rdf.ncbi.nlm.nih.gov/pubmed/11953735 16 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3135 3135 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4339 female NBN http://identifiers.org/ncbigene/4683 Caucasian Russia 4339 Frontal face 2022-02-25 18:44:40 UTC 11953735 http://rdf.ncbi.nlm.nih.gov/pubmed/11953735 16 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3136 3136 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4340 female NBN http://identifiers.org/ncbigene/4683 European Polish 4340 Frontal face 2022-02-25 18:44:42 UTC 11134242 http://rdf.ncbi.nlm.nih.gov/pubmed/11134242 6 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3136 3136 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4340 female NBN http://identifiers.org/ncbigene/4683 European Polish 4340 Frontal face 2022-02-25 18:44:42 UTC 11134242 http://rdf.ncbi.nlm.nih.gov/pubmed/11134242 6 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3136 3136 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4341 female NBN http://identifiers.org/ncbigene/4683 European Polish 4341 Profile 2021-04-28 21:26:11 UTC 11134242 http://rdf.ncbi.nlm.nih.gov/pubmed/11134242 6 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3136 3136 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4341 female NBN http://identifiers.org/ncbigene/4683 European Polish 4341 Profile 2021-04-28 21:26:11 UTC 11134242 http://rdf.ncbi.nlm.nih.gov/pubmed/11134242 6 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_445 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 445 Frontal face 2022-08-30 05:30:41 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 6 2 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/355 355 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_445 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 445 Frontal face 2022-08-30 05:30:41 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 6 2 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/355 355 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_445 male AHDC1 http://identifiers.org/ncbigene/27245 African - Sub-Saharan Congolese 445 Frontal face 2022-08-30 05:30:41 UTC 33372375 http://rdf.ncbi.nlm.nih.gov/pubmed/33372375 6 2 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3219 3219 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_4462 female FLNB http://identifiers.org/ncbigene/2317 Caucasian European/American 4462 Frontal face 2022-02-25 18:47:43 UTC 31836586 http://rdf.ncbi.nlm.nih.gov/pubmed/31836586 0 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3240 3240 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4498 female GNPTAB http://identifiers.org/ncbigene/79158 American - Latin/Hispanic Columbia 4498 Frontal face 2023-09-26 09:47:30 UTC 22015011 http://rdf.ncbi.nlm.nih.gov/pubmed/22015011 0 5 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3240 3240 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4498 female GNPTAB http://identifiers.org/ncbigene/79158 American - Latin/Hispanic Columbia 4498 Frontal face 2023-09-26 09:47:30 UTC 22015011 http://rdf.ncbi.nlm.nih.gov/pubmed/22015011 0 5 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3240 3240 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4499 female GNPTAB http://identifiers.org/ncbigene/79158 American - Latin/Hispanic Columbia 4499 Frontal face 2023-09-26 09:47:41 UTC 22015011 http://rdf.ncbi.nlm.nih.gov/pubmed/22015011 2 3 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3240 3240 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4499 female GNPTAB http://identifiers.org/ncbigene/79158 American - Latin/Hispanic Columbia 4499 Frontal face 2023-09-26 09:47:41 UTC 22015011 http://rdf.ncbi.nlm.nih.gov/pubmed/22015011 2 3 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3250 3250 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4510 female GNPTAB http://identifiers.org/ncbigene/79158 Arab Saudi-Arabian 4510 Frontal face 2023-09-26 14:54:40 UTC 24060719 http://rdf.ncbi.nlm.nih.gov/pubmed/24060719 1 6 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3250 3250 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4510 female GNPTAB http://identifiers.org/ncbigene/79158 Arab Saudi-Arabian 4510 Frontal face 2023-09-26 14:54:40 UTC 24060719 http://rdf.ncbi.nlm.nih.gov/pubmed/24060719 1 6 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3251 3251 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4511 male GNPTAB http://identifiers.org/ncbigene/79158 Arab Saudi-Arabian 4511 Frontal face 2023-09-26 14:54:58 UTC 24060719 http://rdf.ncbi.nlm.nih.gov/pubmed/24060719 1 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3251 3251 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4511 male GNPTAB http://identifiers.org/ncbigene/79158 Arab Saudi-Arabian 4511 Frontal face 2023-09-26 14:54:58 UTC 24060719 http://rdf.ncbi.nlm.nih.gov/pubmed/24060719 1 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3312 3312 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4588 male IDS http://identifiers.org/ncbigene/3423 Asian - East Japanese 4588 Frontal face 2023-10-23 18:51:30 UTC 23375472 http://rdf.ncbi.nlm.nih.gov/pubmed/23375472 2 9 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3312 3312 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4588 male IDS http://identifiers.org/ncbigene/3423 Asian - East Japanese 4588 Frontal face 2023-10-23 18:51:30 UTC 23375472 http://rdf.ncbi.nlm.nih.gov/pubmed/23375472 2 9 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3313 3313 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4589 male IDS http://identifiers.org/ncbigene/3423 Asian - East Japanese 4589 Frontal face 2023-10-23 19:03:57 UTC 23375472 http://rdf.ncbi.nlm.nih.gov/pubmed/23375472 2 10 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3313 3313 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4589 male IDS http://identifiers.org/ncbigene/3423 Asian - East Japanese 4589 Frontal face 2023-10-23 19:03:57 UTC 23375472 http://rdf.ncbi.nlm.nih.gov/pubmed/23375472 2 10 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3454 3454 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4783 female DHCR7 http://identifiers.org/ncbigene/1717 Asian - East Korean 4783 Frontal face 2024-01-14 17:40:34 UTC 18006960 http://rdf.ncbi.nlm.nih.gov/pubmed/18006960 1 2 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3454 3454 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4783 female DHCR7 http://identifiers.org/ncbigene/1717 Asian - East Korean 4783 Frontal face 2024-01-14 17:40:34 UTC 18006960 http://rdf.ncbi.nlm.nih.gov/pubmed/18006960 1 2 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3465 3465 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4801 male KMT2A http://identifiers.org/ncbigene/4297 Arab guessed by Merle ten Hagen 4801 Frontal face 2022-02-25 22:38:43 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3464 3464 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4802 unknown KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 4802 Frontal face 2022-02-25 22:38:43 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3472 3472 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4803 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 4803 Frontal face 2022-02-25 22:38:47 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3466 3466 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4804 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 4804 Frontal face 2022-02-25 22:38:47 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3467 3467 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4805 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 4805 Frontal face 2022-02-25 22:38:51 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3468 3468 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4806 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 4806 Frontal face 2022-02-25 22:38:51 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3469 3469 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4807 unknown KMT2A http://identifiers.org/ncbigene/4297 Caucasian guessed by Merle ten Hagen 4807 Frontal face 2022-02-25 22:38:55 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3470 3470 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4808 unknown KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4808 Frontal face 2022-02-25 22:38:55 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3471 3471 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4809 female KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4809 Frontal face 2022-02-25 22:38:59 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3476 3476 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4810 female KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4810 Frontal face 2022-02-25 22:38:59 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3475 3475 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4811 female KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4811 Frontal face 2022-02-25 22:39:03 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3474 3474 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4812 male KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4812 Frontal face 2022-02-25 22:39:03 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3474 3474 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4813 male KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4813 Profile 2021-05-03 11:56:49 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3477 3477 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4814 female KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4814 Frontal face 2022-02-25 22:39:06 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3477 3477 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4815 female KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4815 Profile 2021-05-03 11:57:39 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3478 3478 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4816 unknown KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4816 Frontal face 2022-02-25 22:39:06 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3473 3473 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4817 male KMT2A http://identifiers.org/ncbigene/4297 Arab guessed by Merle ten Hagen 4817 Frontal face 2022-02-25 22:39:10 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3473 3473 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4818 male KMT2A http://identifiers.org/ncbigene/4297 Arab guessed by Merle ten Hagen 4818 Profile 2021-05-03 11:59:10 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3470 3470 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4819 unknown KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4819 Profile 2021-05-03 11:59:52 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3471 3471 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4820 female KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4820 Profile 2021-05-03 12:00:23 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3476 3476 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4821 female KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4821 Profile 2023-01-01 14:38:20 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3475 3475 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4822 female KMT2A http://identifiers.org/ncbigene/4297 Asian guessed by Merle ten Hagen 4822 Profile 2023-01-01 14:38:32 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3479 3479 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4823 male KMT2A http://identifiers.org/ncbigene/4297 American - Latin/Hispanic guessed by Merle ten Hagen 4823 Frontal face 2022-02-25 22:39:14 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3479 3479 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4824 male KMT2A http://identifiers.org/ncbigene/4297 American - Latin/Hispanic guessed by Merle ten Hagen 4824 Profile 2021-05-03 12:03:46 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3487 3487 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4825 female KMT2A http://identifiers.org/ncbigene/4297 American - Latin/Hispanic guessed by Merle ten Hagen 4825 Frontal face 2022-02-25 22:39:17 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_15461 female KMT2A http://identifiers.org/ncbigene/4297 European "" 15461 Frontal face 2023-09-04 16:23:38 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_15462 female KMT2A http://identifiers.org/ncbigene/4297 European "" 15462 Frontal face 2023-09-04 16:23:42 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_15463 female KMT2A http://identifiers.org/ncbigene/4297 European "" 15463 Frontal face 2023-09-04 16:23:56 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_15464 female KMT2A http://identifiers.org/ncbigene/4297 European "" 15464 Frontal face 2023-09-04 16:24:08 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_15465 female KMT2A http://identifiers.org/ncbigene/4297 European "" 15465 Frontal face 2023-09-04 16:24:19 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_15466 female KMT2A http://identifiers.org/ncbigene/4297 European "" 15466 Frontal face 2023-09-04 16:24:32 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_15467 female KMT2A http://identifiers.org/ncbigene/4297 European "" 15467 Frontal face 2023-09-04 16:24:43 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_15468 female KMT2A http://identifiers.org/ncbigene/4297 European "" 15468 Frontal face 2023-09-04 16:24:56 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_15469 female KMT2A http://identifiers.org/ncbigene/4297 European "" 15469 Frontal face 2023-09-04 16:25:07 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2200973 MONDO:0009318 OMIM:234100 https://db.gestaltmatcher.org/patients/2997 2997 HALLERMANN-STREIFF SYNDROME; HSS https://db.gestaltmatcher.org/patients/image_4168 female GJA1 http://identifiers.org/ncbigene/2697 Caucasian "" 4168 Frontal face 2022-02-25 18:40:18 UTC 29624507 http://rdf.ncbi.nlm.nih.gov/pubmed/29624507 11 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3011 3011 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4202 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4202 Frontal face 2023-08-31 07:40:44 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 8 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3012 3012 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4203 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4203 Frontal face 2023-08-31 07:43:54 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 8 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3013 3013 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4204 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4204 Frontal face 2023-08-31 07:45:18 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 8 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3014 3014 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4205 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4205 Frontal face 2023-08-31 07:57:18 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 13 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3015 3015 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4206 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4206 Frontal face 2023-08-31 08:01:41 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 3 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3016 3016 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4207 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4207 Frontal face 2022-02-25 18:41:00 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3017 3017 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4208 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4208 Frontal face 2023-08-31 08:06:05 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 9 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3018 3018 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4209 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4209 Frontal face 2023-08-31 08:09:14 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 8 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3019 3019 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4210 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4210 Frontal face 2023-08-31 08:12:54 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 3 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3020 3020 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4211 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4211 Frontal face 2023-08-31 08:19:45 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 2 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3021 3021 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4212 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4212 Frontal face 2023-08-31 08:22:09 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 18 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3022 3022 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4213 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4213 Frontal face 2023-08-31 08:24:49 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 14 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3023 3023 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4214 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4214 Frontal face 2023-08-31 08:27:11 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 33 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3024 3024 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4215 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4215 Frontal face 2023-08-31 08:29:53 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 13 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3025 3025 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4216 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4216 Frontal face 2023-08-31 08:31:59 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 9 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3026 3026 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4217 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4217 Frontal face 2023-08-31 08:54:01 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 18 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3027 3027 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4218 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4218 Frontal face 2023-08-31 08:55:50 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 17 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3031 3031 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4226 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4226 Frontal face 2023-08-31 08:58:39 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 1 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3032 3032 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4227 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4227 Frontal face 2023-08-31 09:01:34 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 4 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3033 3033 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4228 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4228 Frontal face 2023-08-31 09:03:40 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 5 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3034 3034 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4229 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4229 Frontal face 2023-08-31 09:05:50 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 10 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3035 3035 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4230 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4230 Frontal face 2022-02-25 18:41:40 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3036 3036 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4231 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4231 Frontal face 2022-02-25 18:41:43 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3037 3037 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4232 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4232 Frontal face 2023-08-31 09:13:38 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 15 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3038 3038 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4233 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4233 Frontal face 2023-08-31 09:16:49 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 10 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3039 3039 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4234 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4234 Frontal face 2022-02-25 18:41:48 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3040 3040 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4235 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4235 Frontal face 2023-08-31 09:21:02 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 7 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3041 3041 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4236 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4236 Frontal face 2023-08-31 09:22:58 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 3 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/3042 3042 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_4237 female DDX3X http://identifiers.org/ncbigene/1654 European "" 4237 Frontal face 2023-08-31 09:25:35 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 11 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3044 3044 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4238 female KMT2A http://identifiers.org/ncbigene/4297 European - Eastern "" 4238 Frontal face 2022-02-25 18:41:55 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 0 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3054 3054 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4248 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4248 Frontal face 2023-09-01 17:01:20 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 12 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3054 3054 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4248 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4248 Frontal face 2023-09-01 17:01:20 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 12 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3054 3054 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4249 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4249 Frontal face 2023-09-01 17:01:27 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 10 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3054 3054 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4249 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4249 Frontal face 2023-09-01 17:01:27 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 10 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3055 3055 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4250 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4250 Frontal face 2023-09-01 17:14:43 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 11 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3055 3055 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4250 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4250 Frontal face 2023-09-01 17:14:43 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 11 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3055 3055 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4251 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4251 Frontal face 2023-09-01 17:14:49 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 9 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3055 3055 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4251 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4251 Frontal face 2023-09-01 17:14:49 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 9 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3056 3056 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4252 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4252 Frontal face 2023-09-01 17:25:37 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 9 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3056 3056 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4252 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4252 Frontal face 2023-09-01 17:25:37 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 9 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3056 3056 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4253 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4253 Frontal face 2023-09-01 17:25:44 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 7 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3056 3056 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4253 male RPS6KA3 http://identifiers.org/ncbigene/6197 Caucasian "" 4253 Frontal face 2023-09-01 17:25:44 UTC 31512387 http://rdf.ncbi.nlm.nih.gov/pubmed/31512387 7 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3060 3060 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4254 male RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4254 Frontal face 2022-02-25 18:42:25 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 7 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3060 3060 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4254 male RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4254 Frontal face 2022-02-25 18:42:25 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 7 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3060 3060 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4255 male RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4255 Frontal face 2022-02-25 18:42:28 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 18 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3060 3060 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4255 male RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4255 Frontal face 2022-02-25 18:42:28 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 18 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3057 3057 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4256 male RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4256 Frontal face 2022-02-25 18:42:29 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 16 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3057 3057 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4256 male RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4256 Frontal face 2022-02-25 18:42:29 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 16 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3058 3058 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4257 female RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4257 Frontal face 2022-02-25 18:42:32 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 16 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3058 3058 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4257 female RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4257 Frontal face 2022-02-25 18:42:32 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 16 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3059 3059 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4258 male RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4258 Frontal face 2022-02-25 18:42:32 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 40 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/3059 3059 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_4258 male RPS6KA3 http://identifiers.org/ncbigene/6197 European "" 4258 Frontal face 2022-02-25 18:42:32 UTC 11180593 http://rdf.ncbi.nlm.nih.gov/pubmed/11180593 40 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3079 3079 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4274 female KMT2A http://identifiers.org/ncbigene/4297 European "" 4274 Frontal face 2023-09-04 16:22:34 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3080 3080 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4275 male KMT2A http://identifiers.org/ncbigene/4297 European "" 4275 Frontal face 2022-02-25 18:43:05 UTC 33043602 http://rdf.ncbi.nlm.nih.gov/pubmed/33043602 3 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3084 3084 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_4279 male RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 4279 Frontal face 2023-09-06 15:07:19 UTC 12838562 http://rdf.ncbi.nlm.nih.gov/pubmed/12838562 18 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3085 3085 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_4280 male RECQL4 http://identifiers.org/ncbigene/9401 Unknown "" 4280 Frontal face 2022-02-25 18:43:13 UTC 11471165 http://rdf.ncbi.nlm.nih.gov/pubmed/11471165 0 9 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3094 3094 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_4289 male RECQL4 http://identifiers.org/ncbigene/9401 Asian - South/Indian "" 4289 Frontal face 2023-09-10 11:36:48 UTC 31406625 http://rdf.ncbi.nlm.nih.gov/pubmed/31406625 8 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3094 3094 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_4290 male RECQL4 http://identifiers.org/ncbigene/9401 Asian - South/Indian "" 4290 Profile 2023-09-10 11:36:53 UTC 31406625 http://rdf.ncbi.nlm.nih.gov/pubmed/31406625 8 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3095 3095 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_4291 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - South/Indian "" 4291 Frontal face 2023-09-10 11:48:08 UTC 31406625 http://rdf.ncbi.nlm.nih.gov/pubmed/31406625 11 6 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3095 3095 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_4292 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - South/Indian "" 4292 Frontal face 2023-09-10 11:37:17 UTC 31406625 http://rdf.ncbi.nlm.nih.gov/pubmed/31406625 0 4 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3095 3095 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_4293 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - South/Indian "" 4293 Profile 2023-09-10 11:47:24 UTC 31406625 http://rdf.ncbi.nlm.nih.gov/pubmed/31406625 11 6 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3118 3118 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4321 female NBN http://identifiers.org/ncbigene/4683 European - Eastern "" 4321 Frontal face 2022-02-25 18:44:13 UTC 22373003 http://rdf.ncbi.nlm.nih.gov/pubmed/22373003 3 5 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3118 3118 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4321 female NBN http://identifiers.org/ncbigene/4683 European - Eastern "" 4321 Frontal face 2022-02-25 18:44:13 UTC 22373003 http://rdf.ncbi.nlm.nih.gov/pubmed/22373003 3 5 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3118 3118 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4322 female NBN http://identifiers.org/ncbigene/4683 European - Eastern "" 4322 Profile 2021-04-28 18:58:41 UTC 22373003 http://rdf.ncbi.nlm.nih.gov/pubmed/22373003 3 5 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3118 3118 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4322 female NBN http://identifiers.org/ncbigene/4683 European - Eastern "" 4322 Profile 2021-04-28 18:58:41 UTC 22373003 http://rdf.ncbi.nlm.nih.gov/pubmed/22373003 3 5 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3124 3124 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4323 female NBN http://identifiers.org/ncbigene/4683 European "" 4323 Frontal face 2022-02-25 18:44:15 UTC 31871422 http://rdf.ncbi.nlm.nih.gov/pubmed/31871422 14 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3124 3124 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4323 female NBN http://identifiers.org/ncbigene/4683 European "" 4323 Frontal face 2022-02-25 18:44:15 UTC 31871422 http://rdf.ncbi.nlm.nih.gov/pubmed/31871422 14 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3124 3124 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4324 female NBN http://identifiers.org/ncbigene/4683 European "" 4324 Frontal face 2022-02-25 18:44:17 UTC 31871422 http://rdf.ncbi.nlm.nih.gov/pubmed/31871422 14 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3124 3124 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4324 female NBN http://identifiers.org/ncbigene/4683 European "" 4324 Frontal face 2022-02-25 18:44:17 UTC 31871422 http://rdf.ncbi.nlm.nih.gov/pubmed/31871422 14 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3124 3124 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4325 female NBN http://identifiers.org/ncbigene/4683 European "" 4325 Frontal face 2022-02-25 18:44:19 UTC 31871422 http://rdf.ncbi.nlm.nih.gov/pubmed/31871422 14 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3124 3124 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4325 female NBN http://identifiers.org/ncbigene/4683 European "" 4325 Frontal face 2022-02-25 18:44:19 UTC 31871422 http://rdf.ncbi.nlm.nih.gov/pubmed/31871422 14 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3126 3126 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4327 female NBN http://identifiers.org/ncbigene/4683 European "" 4327 Frontal face 2022-02-25 18:44:23 UTC 31871422 http://rdf.ncbi.nlm.nih.gov/pubmed/31871422 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3126 3126 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4327 female NBN http://identifiers.org/ncbigene/4683 European "" 4327 Frontal face 2022-02-25 18:44:23 UTC 31871422 http://rdf.ncbi.nlm.nih.gov/pubmed/31871422 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3127 3127 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4328 female NBN http://identifiers.org/ncbigene/4683 European "" 4328 Frontal face 2022-02-25 18:44:25 UTC 20609147 http://rdf.ncbi.nlm.nih.gov/pubmed/20609147 9 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3127 3127 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4328 female NBN http://identifiers.org/ncbigene/4683 European "" 4328 Frontal face 2022-02-25 18:44:25 UTC 20609147 http://rdf.ncbi.nlm.nih.gov/pubmed/20609147 9 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3128 3128 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4329 male NBN http://identifiers.org/ncbigene/4683 Caucasian "" 4329 Frontal face 2022-02-25 18:44:27 UTC 19250427 http://rdf.ncbi.nlm.nih.gov/pubmed/19250427 12 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3128 3128 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4329 male NBN http://identifiers.org/ncbigene/4683 Caucasian "" 4329 Frontal face 2022-02-25 18:44:27 UTC 19250427 http://rdf.ncbi.nlm.nih.gov/pubmed/19250427 12 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3129 3129 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4330 male NBN http://identifiers.org/ncbigene/4683 European "" 4330 Frontal face 2022-02-25 18:44:28 UTC 17103455 http://rdf.ncbi.nlm.nih.gov/pubmed/17103455 0 11 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3129 3129 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4330 male NBN http://identifiers.org/ncbigene/4683 European "" 4330 Frontal face 2022-02-25 18:44:28 UTC 17103455 http://rdf.ncbi.nlm.nih.gov/pubmed/17103455 0 11 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3129 3129 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4331 male NBN http://identifiers.org/ncbigene/4683 European "" 4331 Profile 2021-04-28 19:44:52 UTC 17103455 http://rdf.ncbi.nlm.nih.gov/pubmed/17103455 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3129 3129 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4331 male NBN http://identifiers.org/ncbigene/4683 European "" 4331 Profile 2021-04-28 19:44:52 UTC 17103455 http://rdf.ncbi.nlm.nih.gov/pubmed/17103455 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3134 3134 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4337 male NBN http://identifiers.org/ncbigene/4683 European "" 4337 Frontal face 2022-02-25 18:44:39 UTC 31537806 http://rdf.ncbi.nlm.nih.gov/pubmed/31537806 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3134 3134 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4337 male NBN http://identifiers.org/ncbigene/4683 European "" 4337 Frontal face 2022-02-25 18:44:39 UTC 31537806 http://rdf.ncbi.nlm.nih.gov/pubmed/31537806 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3134 3134 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4338 male NBN http://identifiers.org/ncbigene/4683 European "" 4338 Profile 2021-04-28 20:40:18 UTC 31537806 http://rdf.ncbi.nlm.nih.gov/pubmed/31537806 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/3134 3134 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_4338 male NBN http://identifiers.org/ncbigene/4683 European "" 4338 Profile 2021-04-28 20:40:18 UTC 31537806 http://rdf.ncbi.nlm.nih.gov/pubmed/31537806 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3218 3218 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_4460 male FLNB http://identifiers.org/ncbigene/2317 American - Latin/Hispanic "" 4460 Frontal face 2023-09-22 10:35:29 UTC 28964299 http://rdf.ncbi.nlm.nih.gov/pubmed/28964299 14 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3218 3218 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_4461 male FLNB http://identifiers.org/ncbigene/2317 American - Latin/Hispanic "" 4461 Profile 2023-09-22 10:35:36 UTC 28964299 http://rdf.ncbi.nlm.nih.gov/pubmed/28964299 14 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3242 3242 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4501 male GNPTAB http://identifiers.org/ncbigene/79158 Unknown "" 4501 Frontal face 2023-09-26 10:28:54 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 8 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3242 3242 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4501 male GNPTAB http://identifiers.org/ncbigene/79158 Unknown "" 4501 Frontal face 2023-09-26 10:28:54 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 8 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3242 3242 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4502 male GNPTAB http://identifiers.org/ncbigene/79158 Unknown "" 4502 Frontal face 2023-09-26 10:29:01 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 12 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3242 3242 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4502 male GNPTAB http://identifiers.org/ncbigene/79158 Unknown "" 4502 Frontal face 2023-09-26 10:29:01 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 12 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3243 3243 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4503 male GNPTAB http://identifiers.org/ncbigene/79158 Unknown "" 4503 Frontal face 2023-09-26 10:45:38 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 6 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3243 3243 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4503 male GNPTAB http://identifiers.org/ncbigene/79158 Unknown "" 4503 Frontal face 2023-09-26 10:45:38 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 6 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3245 3245 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4505 female GNPTAB http://identifiers.org/ncbigene/79158 European "" 4505 Frontal face 2023-09-26 11:00:40 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 21 5 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3245 3245 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4505 female GNPTAB http://identifiers.org/ncbigene/79158 European "" 4505 Frontal face 2023-09-26 11:00:40 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 21 5 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3246 3246 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4506 female GNPTAB http://identifiers.org/ncbigene/79158 European "" 4506 Frontal face 2023-09-26 11:06:29 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 20 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3246 3246 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4506 female GNPTAB http://identifiers.org/ncbigene/79158 European "" 4506 Frontal face 2023-09-26 11:06:29 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 20 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3247 3247 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4507 male GNPTAB http://identifiers.org/ncbigene/79158 European "" 4507 Frontal face 2023-09-26 11:21:31 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 17 5 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3247 3247 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4507 male GNPTAB http://identifiers.org/ncbigene/79158 European "" 4507 Frontal face 2023-09-26 11:21:31 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 17 5 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3248 3248 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4508 female GNPTAB http://identifiers.org/ncbigene/79158 European "" 4508 Frontal face 2023-09-26 11:24:16 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 7 5 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3248 3248 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4508 female GNPTAB http://identifiers.org/ncbigene/79158 European "" 4508 Frontal face 2023-09-26 11:24:16 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 7 5 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3249 3249 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4509 female GNPTAB http://identifiers.org/ncbigene/79158 European "" 4509 Frontal face 2023-09-26 11:34:08 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 6 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3249 3249 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4509 female GNPTAB http://identifiers.org/ncbigene/79158 European "" 4509 Frontal face 2023-09-26 11:34:08 UTC 24045841 http://rdf.ncbi.nlm.nih.gov/pubmed/24045841 6 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3291 3291 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4559 female IDUA http://identifiers.org/ncbigene/3425 Caucasian "" 4559 Frontal face 2023-10-15 13:14:13 UTC 19712183 http://rdf.ncbi.nlm.nih.gov/pubmed/19712183 1 2 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3291 3291 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4559 female IDUA http://identifiers.org/ncbigene/3425 Caucasian "" 4559 Frontal face 2023-10-15 13:14:13 UTC 19712183 http://rdf.ncbi.nlm.nih.gov/pubmed/19712183 1 2 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3291 3291 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4560 female IDUA http://identifiers.org/ncbigene/3425 Caucasian "" 4560 Frontal face 2023-10-15 13:14:27 UTC 19712183 http://rdf.ncbi.nlm.nih.gov/pubmed/19712183 5 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3291 3291 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4560 female IDUA http://identifiers.org/ncbigene/3425 Caucasian "" 4560 Frontal face 2023-10-15 13:14:27 UTC 19712183 http://rdf.ncbi.nlm.nih.gov/pubmed/19712183 5 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3296 3296 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4564 female IDUA http://identifiers.org/ncbigene/3425 Unknown "" 4564 Frontal face 2023-10-15 16:14:16 UTC 23721889 http://rdf.ncbi.nlm.nih.gov/pubmed/23721889 6 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3296 3296 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4564 female IDUA http://identifiers.org/ncbigene/3425 Unknown "" 4564 Frontal face 2023-10-15 16:14:16 UTC 23721889 http://rdf.ncbi.nlm.nih.gov/pubmed/23721889 6 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3297 3297 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4565 male IDUA http://identifiers.org/ncbigene/3425 Unknown "" 4565 Frontal face 2023-10-15 16:21:32 UTC 23721889 http://rdf.ncbi.nlm.nih.gov/pubmed/23721889 6 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3297 3297 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4565 male IDUA http://identifiers.org/ncbigene/3425 Unknown "" 4565 Frontal face 2023-10-15 16:21:32 UTC 23721889 http://rdf.ncbi.nlm.nih.gov/pubmed/23721889 6 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3298 3298 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4566 female IDUA http://identifiers.org/ncbigene/3425 Unknown "" 4566 Frontal face 2023-10-15 16:28:25 UTC 23721889 http://rdf.ncbi.nlm.nih.gov/pubmed/23721889 4 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3298 3298 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4566 female IDUA http://identifiers.org/ncbigene/3425 Unknown "" 4566 Frontal face 2023-10-15 16:28:25 UTC 23721889 http://rdf.ncbi.nlm.nih.gov/pubmed/23721889 4 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3299 3299 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4567 male IDUA http://identifiers.org/ncbigene/3425 European "" 4567 Frontal face 2023-10-15 16:39:14 UTC 24698225 http://rdf.ncbi.nlm.nih.gov/pubmed/24698225 0 1 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3299 3299 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4567 male IDUA http://identifiers.org/ncbigene/3425 European "" 4567 Frontal face 2023-10-15 16:39:14 UTC 24698225 http://rdf.ncbi.nlm.nih.gov/pubmed/24698225 0 1 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3310 3310 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4584 female IDS http://identifiers.org/ncbigene/3423 Caucasian "" 4584 Frontal face 2023-10-23 18:36:34 UTC 25044788 http://rdf.ncbi.nlm.nih.gov/pubmed/25044788 12 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3310 3310 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4584 female IDS http://identifiers.org/ncbigene/3423 Caucasian "" 4584 Frontal face 2023-10-23 18:36:34 UTC 25044788 http://rdf.ncbi.nlm.nih.gov/pubmed/25044788 12 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3310 3310 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4585 female IDS http://identifiers.org/ncbigene/3423 Caucasian "" 4585 Frontal face 2023-10-23 18:36:40 UTC 25044788 http://rdf.ncbi.nlm.nih.gov/pubmed/25044788 12 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3310 3310 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4585 female IDS http://identifiers.org/ncbigene/3423 Caucasian "" 4585 Frontal face 2023-10-23 18:36:40 UTC 25044788 http://rdf.ncbi.nlm.nih.gov/pubmed/25044788 12 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3453 3453 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4782 male DHCR7 http://identifiers.org/ncbigene/1717 European "" 4782 Frontal face 2024-01-14 17:37:54 UTC 17974928 http://rdf.ncbi.nlm.nih.gov/pubmed/17974928 11 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3453 3453 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4782 male DHCR7 http://identifiers.org/ncbigene/1717 European "" 4782 Frontal face 2024-01-14 17:37:54 UTC 17974928 http://rdf.ncbi.nlm.nih.gov/pubmed/17974928 11 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3488 3488 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4826 female KMT2A http://identifiers.org/ncbigene/4297 African "" 4826 Frontal face 2022-02-25 22:39:17 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3489 3489 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4827 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 4827 Frontal face 2022-02-25 22:39:21 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3489 3489 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4828 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 4828 Profile 2021-05-03 12:05:46 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3490 3490 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4829 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 4829 Frontal face 2022-02-25 22:39:21 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3490 3490 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4830 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 4830 Profile 2021-05-03 12:06:29 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3481 3481 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4831 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 4831 Frontal face 2022-02-25 22:39:25 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3481 3481 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4832 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 4832 Profile 2021-05-03 12:07:08 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3482 3482 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4833 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 4833 Frontal face 2022-02-25 22:39:25 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3483 3483 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4834 female KMT2A http://identifiers.org/ncbigene/4297 African "" 4834 Profile 2021-05-03 12:08:02 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3484 3484 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4835 unknown KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 4835 Frontal face 2022-02-25 22:39:29 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/3485 3485 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_4836 female KMT2A http://identifiers.org/ncbigene/4297 African "" 4836 Frontal face 2022-02-25 22:39:29 UTC 33783954 http://rdf.ncbi.nlm.nih.gov/pubmed/33783954 0 0 "" NANDO:2200217 MONDO:0008685 OMIM:194200 https://db.gestaltmatcher.org/patients/3200 3200 WOLFF-PARKINSON-WHITE SYNDROME https://db.gestaltmatcher.org/patients/image_4413 male BMP2 http://identifiers.org/ncbigene/650 "" "" 4413 Frontal face 2022-02-25 18:46:43 UTC 18775522 http://rdf.ncbi.nlm.nih.gov/pubmed/18775522 0 6 "" NANDO:2200217 MONDO:0008685 OMIM:194200 https://db.gestaltmatcher.org/patients/3200 3200 WOLFF-PARKINSON-WHITE SYNDROME https://db.gestaltmatcher.org/patients/image_4413 male JAG1 http://identifiers.org/ncbigene/182 "" "" 4413 Frontal face 2022-02-25 18:46:43 UTC 18775522 http://rdf.ncbi.nlm.nih.gov/pubmed/18775522 0 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3455 3455 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4785 male DHCR7 http://identifiers.org/ncbigene/1717 "" "" 4785 Frontal face 2024-01-14 17:54:43 UTC 23509885 http://rdf.ncbi.nlm.nih.gov/pubmed/23509885 22 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3455 3455 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4785 male DHCR7 http://identifiers.org/ncbigene/1717 "" "" 4785 Frontal face 2024-01-14 17:54:43 UTC 23509885 http://rdf.ncbi.nlm.nih.gov/pubmed/23509885 22 0 "" NANDO:1200630 MONDO:0020603 OMIM:302960 https://db.gestaltmatcher.org/patients/3456 3456 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT https://db.gestaltmatcher.org/patients/image_4787 female EBP http://identifiers.org/ncbigene/10682 "" "" 4787 Frontal face 2024-01-14 18:07:18 UTC 23509885 http://rdf.ncbi.nlm.nih.gov/pubmed/23509885 20 0 "" NANDO:2201357 MONDO:0020603 OMIM:302960 https://db.gestaltmatcher.org/patients/3456 3456 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT https://db.gestaltmatcher.org/patients/image_4787 female EBP http://identifiers.org/ncbigene/10682 "" "" 4787 Frontal face 2024-01-14 18:07:18 UTC 23509885 http://rdf.ncbi.nlm.nih.gov/pubmed/23509885 20 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3455 3455 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4784 male DHCR7 http://identifiers.org/ncbigene/1717 "" "" 4784 Frontal face 2022-04-18 21:44:35 UTC 23509885 http://rdf.ncbi.nlm.nih.gov/pubmed/23509885 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3455 3455 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4784 male DHCR7 http://identifiers.org/ncbigene/1717 "" "" 4784 Frontal face 2022-04-18 21:44:35 UTC 23509885 http://rdf.ncbi.nlm.nih.gov/pubmed/23509885 "" "" "" NANDO:2201357 MONDO:0020603 OMIM:302960 https://db.gestaltmatcher.org/patients/3456 3456 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT https://db.gestaltmatcher.org/patients/image_4786 female EBP http://identifiers.org/ncbigene/10682 "" "" 4786 Frontal face 2022-04-18 21:44:35 UTC 23509885 http://rdf.ncbi.nlm.nih.gov/pubmed/23509885 "" "" "" NANDO:1200630 MONDO:0020603 OMIM:302960 https://db.gestaltmatcher.org/patients/3456 3456 CHONDRODYSPLASIA PUNCTATA 2, X-LINKED DOMINANT https://db.gestaltmatcher.org/patients/image_4786 female EBP http://identifiers.org/ncbigene/10682 "" "" 4786 Frontal face 2022-04-18 21:44:35 UTC 23509885 http://rdf.ncbi.nlm.nih.gov/pubmed/23509885 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3227 3227 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4479 male "" "" Caucasian German 4479 Frontal face 2023-09-25 16:08:02 UTC 16835905 http://rdf.ncbi.nlm.nih.gov/pubmed/16835905 7 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3227 3227 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4479 male "" "" Caucasian German 4479 Frontal face 2023-09-25 16:08:02 UTC 16835905 http://rdf.ncbi.nlm.nih.gov/pubmed/16835905 7 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3227 3227 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4480 male "" "" Caucasian German 4480 Frontal face 2023-09-25 16:08:08 UTC 16835905 http://rdf.ncbi.nlm.nih.gov/pubmed/16835905 12 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3227 3227 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4480 male "" "" Caucasian German 4480 Frontal face 2023-09-25 16:08:08 UTC 16835905 http://rdf.ncbi.nlm.nih.gov/pubmed/16835905 12 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3241 3241 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4500 female "" "" Caucasian German 4500 Frontal face 2023-09-26 10:01:24 UTC 22368665 http://rdf.ncbi.nlm.nih.gov/pubmed/22368665 0 9 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3241 3241 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4500 female "" "" Caucasian German 4500 Frontal face 2023-09-26 10:01:24 UTC 22368665 http://rdf.ncbi.nlm.nih.gov/pubmed/22368665 0 9 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3257 3257 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4518 male "" "" Asian Baluch 4518 Frontal face 2023-09-26 16:06:08 UTC 8131303 http://rdf.ncbi.nlm.nih.gov/pubmed/8131303 8 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3257 3257 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4518 male "" "" Asian Baluch 4518 Frontal face 2023-09-26 16:06:08 UTC 8131303 http://rdf.ncbi.nlm.nih.gov/pubmed/8131303 8 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3258 3258 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4519 male "" "" Asian Baluch 4519 Frontal face 2023-09-26 16:26:45 UTC 8131303 http://rdf.ncbi.nlm.nih.gov/pubmed/8131303 9 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3258 3258 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4519 male "" "" Asian Baluch 4519 Frontal face 2023-09-26 16:26:45 UTC 8131303 http://rdf.ncbi.nlm.nih.gov/pubmed/8131303 9 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3259 3259 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4520 male "" "" Asian Baluch 4520 Frontal face 2023-09-26 16:36:09 UTC 8131303 http://rdf.ncbi.nlm.nih.gov/pubmed/8131303 12 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3259 3259 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4520 male "" "" Asian Baluch 4520 Frontal face 2023-09-26 16:36:09 UTC 8131303 http://rdf.ncbi.nlm.nih.gov/pubmed/8131303 12 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3286 3286 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4554 female "" "" Asian - East Japanese 4554 Frontal face 2023-10-15 11:59:56 UTC 15633973 http://rdf.ncbi.nlm.nih.gov/pubmed/15633973 27 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3286 3286 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4554 female "" "" Asian - East Japanese 4554 Frontal face 2023-10-15 11:59:56 UTC 15633973 http://rdf.ncbi.nlm.nih.gov/pubmed/15633973 27 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3288 3288 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4556 female "" "" European - Northwestern Swedish 4556 Frontal face 2023-10-15 12:20:10 UTC 17083538 http://rdf.ncbi.nlm.nih.gov/pubmed/17083538 1 3 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3288 3288 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4556 female "" "" European - Northwestern Swedish 4556 Frontal face 2023-10-15 12:20:10 UTC 17083538 http://rdf.ncbi.nlm.nih.gov/pubmed/17083538 1 3 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3289 3289 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4557 female "" "" Asian - West/Middle Eastern Turkish 4557 Frontal face 2023-10-15 12:26:27 UTC 17365060 http://rdf.ncbi.nlm.nih.gov/pubmed/17365060 3 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3289 3289 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4557 female "" "" Asian - West/Middle Eastern Turkish 4557 Frontal face 2023-10-15 12:26:27 UTC 17365060 http://rdf.ncbi.nlm.nih.gov/pubmed/17365060 3 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3292 3292 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4561 female "" "" Asian - South/Indian Indian 4561 Frontal face 2023-10-15 14:44:35 UTC 22114460 http://rdf.ncbi.nlm.nih.gov/pubmed/22114460 15 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3292 3292 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4561 female "" "" Asian - South/Indian Indian 4561 Frontal face 2023-10-15 14:44:35 UTC 22114460 http://rdf.ncbi.nlm.nih.gov/pubmed/22114460 15 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3308 3308 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4581 female "" "" European English 4581 Frontal face 2023-10-19 16:42:59 UTC 6418082 http://rdf.ncbi.nlm.nih.gov/pubmed/6418082 3 3 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3308 3308 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4581 female "" "" European English 4581 Frontal face 2023-10-19 16:42:59 UTC 6418082 http://rdf.ncbi.nlm.nih.gov/pubmed/6418082 3 3 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3314 3314 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4590 male "" "" European Romania 4590 Frontal face 2023-12-16 13:17:02 UTC 23307460 http://rdf.ncbi.nlm.nih.gov/pubmed/23307460 2 4 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3314 3314 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4590 male "" "" European Romania 4590 Frontal face 2023-12-16 13:17:02 UTC 23307460 http://rdf.ncbi.nlm.nih.gov/pubmed/23307460 2 4 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3314 3314 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4591 male "" "" European Romania 4591 Frontal face 2023-12-16 13:17:14 UTC 23307460 http://rdf.ncbi.nlm.nih.gov/pubmed/23307460 4 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3314 3314 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4591 male "" "" European Romania 4591 Frontal face 2023-12-16 13:17:14 UTC 23307460 http://rdf.ncbi.nlm.nih.gov/pubmed/23307460 4 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3317 3317 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4594 male "" "" American - Latin/Hispanic Honduran 4594 Frontal face 2023-12-16 14:21:37 UTC 22190500 http://rdf.ncbi.nlm.nih.gov/pubmed/22190500 2 3 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3317 3317 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4594 male "" "" American - Latin/Hispanic Honduran 4594 Frontal face 2023-12-16 14:21:37 UTC 22190500 http://rdf.ncbi.nlm.nih.gov/pubmed/22190500 2 3 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3317 3317 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4595 male "" "" American - Latin/Hispanic Honduran 4595 Frontal face 2023-12-16 14:21:48 UTC 22190500 http://rdf.ncbi.nlm.nih.gov/pubmed/22190500 2 3 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3317 3317 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4595 male "" "" American - Latin/Hispanic Honduran 4595 Frontal face 2023-12-16 14:21:48 UTC 22190500 http://rdf.ncbi.nlm.nih.gov/pubmed/22190500 2 3 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3318 3318 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4596 male "" "" Asian - West/Middle Eastern Syrian 4596 Frontal face 2023-12-16 14:24:14 UTC 9780074 http://rdf.ncbi.nlm.nih.gov/pubmed/9780074 7 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3318 3318 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4596 male "" "" Asian - West/Middle Eastern Syrian 4596 Frontal face 2023-12-16 14:24:14 UTC 9780074 http://rdf.ncbi.nlm.nih.gov/pubmed/9780074 7 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3318 3318 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4597 male "" "" Asian - West/Middle Eastern Syrian 4597 Frontal face 2023-12-16 14:24:20 UTC 9780074 http://rdf.ncbi.nlm.nih.gov/pubmed/9780074 7 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3318 3318 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4597 male "" "" Asian - West/Middle Eastern Syrian 4597 Frontal face 2023-12-16 14:24:20 UTC 9780074 http://rdf.ncbi.nlm.nih.gov/pubmed/9780074 7 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3332 3332 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4620 male "" "" European - Northwestern British 4620 Frontal face 2023-12-17 12:20:28 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 6 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3332 3332 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4620 male "" "" European - Northwestern British 4620 Frontal face 2023-12-17 12:20:28 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 6 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3333 3333 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4621 male "" "" European - Northwestern British 4621 Frontal face 2023-12-17 14:01:40 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 22 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3333 3333 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4621 male "" "" European - Northwestern British 4621 Frontal face 2023-12-17 14:01:40 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 22 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3334 3334 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4622 male "" "" European - Northwestern British 4622 Frontal face 2023-12-17 14:04:17 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 15 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3334 3334 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4622 male "" "" European - Northwestern British 4622 Frontal face 2023-12-17 14:04:17 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 15 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3335 3335 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4623 male "" "" European - Northwestern British 4623 Frontal face 2023-12-17 14:06:25 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 20 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3335 3335 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4623 male "" "" European - Northwestern British 4623 Frontal face 2023-12-17 14:06:25 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 20 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3424 3424 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4749 female "" "" European - Northwestern English-Scottish 4749 Frontal face 2024-01-11 17:57:11 UTC 7395908 http://rdf.ncbi.nlm.nih.gov/pubmed/7395908 17 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3424 3424 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4749 female "" "" European - Northwestern English-Scottish 4749 Frontal face 2024-01-11 17:57:11 UTC 7395908 http://rdf.ncbi.nlm.nih.gov/pubmed/7395908 17 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3425 3425 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4750 male "" "" European - Northwestern English-Scottish 4750 Frontal face 2024-01-11 18:13:15 UTC 7395908 http://rdf.ncbi.nlm.nih.gov/pubmed/7395908 18 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3425 3425 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4750 male "" "" European - Northwestern English-Scottish 4750 Frontal face 2024-01-11 18:13:15 UTC 7395908 http://rdf.ncbi.nlm.nih.gov/pubmed/7395908 18 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3430 3430 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4755 female "" "" European - Southern Portuguese 4755 Frontal face 2024-01-11 19:12:41 UTC 8259166 http://rdf.ncbi.nlm.nih.gov/pubmed/8259166 10 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3430 3430 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4755 female "" "" European - Southern Portuguese 4755 Frontal face 2024-01-11 19:12:41 UTC 8259166 http://rdf.ncbi.nlm.nih.gov/pubmed/8259166 10 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3434 3434 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4759 male "" "" European - Northwestern British 4759 Frontal face 2024-01-13 14:48:38 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 1 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3434 3434 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4759 male "" "" European - Northwestern British 4759 Frontal face 2024-01-13 14:48:38 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 1 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3435 3435 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4760 female "" "" European - Northwestern British 4760 Frontal face 2024-01-13 14:51:41 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 1 4 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3435 3435 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4760 female "" "" European - Northwestern British 4760 Frontal face 2024-01-13 14:51:41 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 1 4 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3436 3436 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4761 male "" "" European - Northwestern British 4761 Frontal face 2024-01-13 14:56:01 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 0 3 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3436 3436 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4761 male "" "" European - Northwestern British 4761 Frontal face 2024-01-13 14:56:01 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 0 3 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3436 3436 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4762 male "" "" European - Northwestern British 4762 Frontal face 2024-01-13 15:00:25 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 4 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3436 3436 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4762 male "" "" European - Northwestern British 4762 Frontal face 2024-01-13 15:00:25 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 4 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3436 3436 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4763 male "" "" European - Northwestern British 4763 Frontal face 2024-01-13 15:00:33 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 8 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3436 3436 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4763 male "" "" European - Northwestern British 4763 Frontal face 2024-01-13 15:00:33 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 8 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3436 3436 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4764 male "" "" European - Northwestern British 4764 Frontal face 2024-01-13 15:00:40 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 26 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3436 3436 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4764 male "" "" European - Northwestern British 4764 Frontal face 2024-01-13 15:00:40 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 26 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3437 3437 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4765 female "" "" European - Northwestern British 4765 Frontal face 2024-01-13 15:07:38 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 25 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3437 3437 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4765 female "" "" European - Northwestern British 4765 Frontal face 2024-01-13 15:07:38 UTC 9678700 http://rdf.ncbi.nlm.nih.gov/pubmed/9678700 25 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3438 3438 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4766 female "" "" American - Native Southeastern American Cherokee 4766 Frontal face 2024-01-13 15:42:39 UTC 9714006 http://rdf.ncbi.nlm.nih.gov/pubmed/9714006 10 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3438 3438 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4766 female "" "" American - Native Southeastern American Cherokee 4766 Frontal face 2024-01-13 15:42:39 UTC 9714006 http://rdf.ncbi.nlm.nih.gov/pubmed/9714006 10 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3450 3450 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4778 male "" "" Caucasian Dutch 4778 Frontal face 2024-01-14 16:22:10 UTC 12949967 http://rdf.ncbi.nlm.nih.gov/pubmed/12949967 13 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3450 3450 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4778 male "" "" Caucasian Dutch 4778 Frontal face 2024-01-14 16:22:10 UTC 12949967 http://rdf.ncbi.nlm.nih.gov/pubmed/12949967 13 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3452 3452 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4780 female "" "" European - Northwestern German 4780 Frontal face 2024-01-14 17:06:05 UTC 16435228 http://rdf.ncbi.nlm.nih.gov/pubmed/16435228 0 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3452 3452 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4780 female "" "" European - Northwestern German 4780 Frontal face 2024-01-14 17:06:05 UTC 16435228 http://rdf.ncbi.nlm.nih.gov/pubmed/16435228 0 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3452 3452 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4781 female "" "" European - Northwestern German 4781 Frontal face 2024-01-14 17:06:11 UTC 16435228 http://rdf.ncbi.nlm.nih.gov/pubmed/16435228 0 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3452 3452 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4781 female "" "" European - Northwestern German 4781 Frontal face 2024-01-14 17:06:11 UTC 16435228 http://rdf.ncbi.nlm.nih.gov/pubmed/16435228 0 6 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3244 3244 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4504 male "" "" Asian - South/Indian Israeli with Jewish-Indian ancestry 4504 Frontal face 2022-04-18 21:44:35 UTC 24045842 http://rdf.ncbi.nlm.nih.gov/pubmed/24045842 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3244 3244 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4504 male "" "" Asian - South/Indian Israeli with Jewish-Indian ancestry 4504 Frontal face 2022-04-18 21:44:35 UTC 24045842 http://rdf.ncbi.nlm.nih.gov/pubmed/24045842 "" "" "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3254 3254 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4515 female "" "" Other Cape coloured 4515 Frontal face 2022-04-18 21:44:35 UTC 850847 http://rdf.ncbi.nlm.nih.gov/pubmed/850847 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3254 3254 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4515 female "" "" Other Cape coloured 4515 Frontal face 2022-04-18 21:44:35 UTC 850847 http://rdf.ncbi.nlm.nih.gov/pubmed/850847 "" "" "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3255 3255 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4516 female "" "" Other Cape coloured 4516 Frontal face 2022-04-18 21:44:35 UTC 850847 http://rdf.ncbi.nlm.nih.gov/pubmed/850847 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3255 3255 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4516 female "" "" Other Cape coloured 4516 Frontal face 2022-04-18 21:44:35 UTC 850847 http://rdf.ncbi.nlm.nih.gov/pubmed/850847 "" "" "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3265 3265 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4526 male "" "" European - Northwestern German 4526 Frontal face 2022-04-18 21:44:35 UTC 16094673 http://rdf.ncbi.nlm.nih.gov/pubmed/16094673 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3265 3265 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4526 male "" "" European - Northwestern German 4526 Frontal face 2022-04-18 21:44:35 UTC 16094673 http://rdf.ncbi.nlm.nih.gov/pubmed/16094673 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3446 3446 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4774 male "" "" Arab Syrian-Lebanese 4774 Frontal face 2022-04-18 21:44:35 UTC 12116246 http://rdf.ncbi.nlm.nih.gov/pubmed/12116246 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3446 3446 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4774 male "" "" Arab Syrian-Lebanese 4774 Frontal face 2022-04-18 21:44:35 UTC 12116246 http://rdf.ncbi.nlm.nih.gov/pubmed/12116246 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3447 3447 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4775 female "" "" Arab Syrian-Lebanese 4775 Frontal face 2022-04-18 21:44:35 UTC 12116246 http://rdf.ncbi.nlm.nih.gov/pubmed/12116246 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3447 3447 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4775 female "" "" Arab Syrian-Lebanese 4775 Frontal face 2022-04-18 21:44:35 UTC 12116246 http://rdf.ncbi.nlm.nih.gov/pubmed/12116246 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3448 3448 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4776 female "" "" African - North Libyan 4776 Frontal face 2022-04-18 21:44:35 UTC 12797454 http://rdf.ncbi.nlm.nih.gov/pubmed/12797454 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3448 3448 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4776 female "" "" African - North Libyan 4776 Frontal face 2022-04-18 21:44:35 UTC 12797454 http://rdf.ncbi.nlm.nih.gov/pubmed/12797454 "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/33 33 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_40 female "" "" "" African 40 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/33 33 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_40 female "" "" "" African 40 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/33 33 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_41 female "" "" "" African 41 Profile 2023-01-01 14:35:26 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/33 33 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_41 female "" "" "" African 41 Profile 2023-01-01 14:35:26 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/34 34 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_42 female "" "" "" American (Chinese descent) 42 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 38 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/34 34 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_42 female "" "" "" American (Chinese descent) 42 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 38 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/35 35 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_43 male "" "" "" Chinese 43 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/35 35 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_43 male "" "" "" Chinese 43 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3 3 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_2 male "" "" "" Caucasian 2 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 "" "" (school-age child) NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3 3 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_2 male "" "" "" Caucasian 2 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 "" "" (school-age child) NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3224 3224 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4474 male "" "" Caucasian "" 4474 Frontal face 2023-09-25 15:28:48 UTC 722439 http://rdf.ncbi.nlm.nih.gov/pubmed/722439 0 0 2w NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3224 3224 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4474 male "" "" Caucasian "" 4474 Frontal face 2023-09-25 15:28:48 UTC 722439 http://rdf.ncbi.nlm.nih.gov/pubmed/722439 0 0 2w NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3400 3400 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4714 unknown "" "" European "" 4714 Frontal face 2023-12-22 11:20:20 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 0 0 newborn NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3400 3400 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4714 unknown "" "" European "" 4714 Frontal face 2023-12-22 11:20:20 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 0 0 newborn NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4715 female "" "" European "" 4715 Frontal face 2023-12-22 11:21:23 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 0 0 newborn NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4715 female "" "" European "" 4715 Frontal face 2023-12-22 11:21:23 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 0 0 newborn NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3220 3220 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4470 male "" "" Unknown "" 4470 Frontal face 2023-09-25 14:16:10 UTC 7628121 http://rdf.ncbi.nlm.nih.gov/pubmed/7628121 0 3 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3220 3220 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4470 male "" "" Unknown "" 4470 Frontal face 2023-09-25 14:16:10 UTC 7628121 http://rdf.ncbi.nlm.nih.gov/pubmed/7628121 0 3 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3221 3221 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4471 female "" "" Unknown "" 4471 Frontal face 2023-09-25 14:26:04 UTC 7628121 http://rdf.ncbi.nlm.nih.gov/pubmed/7628121 1 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3221 3221 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4471 female "" "" Unknown "" 4471 Frontal face 2023-09-25 14:26:04 UTC 7628121 http://rdf.ncbi.nlm.nih.gov/pubmed/7628121 1 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3224 3224 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4475 male "" "" Caucasian "" 4475 Frontal face 2023-09-25 15:28:57 UTC 722439 http://rdf.ncbi.nlm.nih.gov/pubmed/722439 1 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3224 3224 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4475 male "" "" Caucasian "" 4475 Frontal face 2023-09-25 15:28:57 UTC 722439 http://rdf.ncbi.nlm.nih.gov/pubmed/722439 1 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3225 3225 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4476 female "" "" European "" 4476 Frontal face 2023-09-25 15:30:40 UTC 4216890 http://rdf.ncbi.nlm.nih.gov/pubmed/4216890 2 6 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3225 3225 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4476 female "" "" European "" 4476 Frontal face 2023-09-25 15:30:40 UTC 4216890 http://rdf.ncbi.nlm.nih.gov/pubmed/4216890 2 6 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3225 3225 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4477 female "" "" European "" 4477 Frontal face 2023-09-25 15:30:50 UTC 4216890 http://rdf.ncbi.nlm.nih.gov/pubmed/4216890 2 6 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3225 3225 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4477 female "" "" European "" 4477 Frontal face 2023-09-25 15:30:50 UTC 4216890 http://rdf.ncbi.nlm.nih.gov/pubmed/4216890 2 6 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3226 3226 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4478 male "" "" Unknown "" 4478 Frontal face 2023-09-25 15:48:19 UTC 6125101 http://rdf.ncbi.nlm.nih.gov/pubmed/6125101 0 10 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3226 3226 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4478 male "" "" Unknown "" 4478 Frontal face 2023-09-25 15:48:19 UTC 6125101 http://rdf.ncbi.nlm.nih.gov/pubmed/6125101 0 10 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3228 3228 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4481 male "" "" Asian "" 4481 Frontal face 2023-09-25 16:31:13 UTC 3594472 http://rdf.ncbi.nlm.nih.gov/pubmed/3594472 4 9 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3228 3228 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4481 male "" "" Asian "" 4481 Frontal face 2023-09-25 16:31:13 UTC 3594472 http://rdf.ncbi.nlm.nih.gov/pubmed/3594472 4 9 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3229 3229 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4483 female "" "" African "" 4483 Frontal face 2023-09-26 08:02:33 UTC 6321669 http://rdf.ncbi.nlm.nih.gov/pubmed/6321669 2 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3229 3229 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4483 female "" "" African "" 4483 Frontal face 2023-09-26 08:02:33 UTC 6321669 http://rdf.ncbi.nlm.nih.gov/pubmed/6321669 2 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3230 3230 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4484 female "" "" Asian - South/Indian "" 4484 Frontal face 2023-09-26 08:04:42 UTC 11028124 http://rdf.ncbi.nlm.nih.gov/pubmed/11028124 2 6 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3230 3230 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4484 female "" "" Asian - South/Indian "" 4484 Frontal face 2023-09-26 08:04:42 UTC 11028124 http://rdf.ncbi.nlm.nih.gov/pubmed/11028124 2 6 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3231 3231 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4485 male "" "" Asian - West/Middle Eastern "" 4485 Frontal face 2023-09-26 08:21:59 UTC 12483356 http://rdf.ncbi.nlm.nih.gov/pubmed/12483356 0 7 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3231 3231 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4485 male "" "" Asian - West/Middle Eastern "" 4485 Frontal face 2023-09-26 08:21:59 UTC 12483356 http://rdf.ncbi.nlm.nih.gov/pubmed/12483356 0 7 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3232 3232 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4486 male "" "" Caucasian "" 4486 Frontal face 2023-09-26 08:43:59 UTC 17228159 http://rdf.ncbi.nlm.nih.gov/pubmed/17228159 0 3 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3232 3232 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4486 male "" "" Caucasian "" 4486 Frontal face 2023-09-26 08:43:59 UTC 17228159 http://rdf.ncbi.nlm.nih.gov/pubmed/17228159 0 3 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3233 3233 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4487 male "" "" Caucasian "" 4487 Frontal face 2023-09-26 08:50:01 UTC 17228159 http://rdf.ncbi.nlm.nih.gov/pubmed/17228159 0 10 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3233 3233 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4487 male "" "" Caucasian "" 4487 Frontal face 2023-09-26 08:50:01 UTC 17228159 http://rdf.ncbi.nlm.nih.gov/pubmed/17228159 0 10 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3234 3234 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4488 female "" "" Unknown "" 4488 Frontal face 2023-09-26 09:05:31 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 5 10 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3234 3234 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4488 female "" "" Unknown "" 4488 Frontal face 2023-09-26 09:05:31 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 5 10 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3234 3234 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4489 female "" "" Unknown "" 4489 Frontal face 2023-09-26 09:05:49 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 5 10 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3234 3234 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4489 female "" "" Unknown "" 4489 Frontal face 2023-09-26 09:05:49 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 5 10 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3237 3237 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4494 female "" "" Unknown "" 4494 Frontal face 2023-09-26 09:25:33 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 3 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3237 3237 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4494 female "" "" Unknown "" 4494 Frontal face 2023-09-26 09:25:33 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 3 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3238 3238 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4495 male "" "" Unknown "" 4495 Frontal face 2023-09-26 09:30:04 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 3 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3238 3238 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4495 male "" "" Unknown "" 4495 Frontal face 2023-09-26 09:30:04 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 3 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3239 3239 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4496 unknown "" "" Unknown "" 4496 Frontal face 2023-09-26 09:30:27 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 1 1 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3239 3239 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4496 unknown "" "" Unknown "" 4496 Frontal face 2023-09-26 09:30:27 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 1 1 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3239 3239 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4497 unknown "" "" Unknown "" 4497 Frontal face 2023-09-26 09:30:37 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 3 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3239 3239 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4497 unknown "" "" Unknown "" 4497 Frontal face 2023-09-26 09:30:37 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 3 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3252 3252 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4512 female "" "" Caucasian "" 4512 Frontal face 2023-09-26 15:06:34 UTC 152578 http://rdf.ncbi.nlm.nih.gov/pubmed/152578 16 4 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3252 3252 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4512 female "" "" Caucasian "" 4512 Frontal face 2023-09-26 15:06:34 UTC 152578 http://rdf.ncbi.nlm.nih.gov/pubmed/152578 16 4 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3253 3253 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4513 male "" "" European "" 4513 Frontal face 2023-09-26 15:31:52 UTC 174265 http://rdf.ncbi.nlm.nih.gov/pubmed/174265 14 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3253 3253 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4513 male "" "" European "" 4513 Frontal face 2023-09-26 15:31:52 UTC 174265 http://rdf.ncbi.nlm.nih.gov/pubmed/174265 14 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3253 3253 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4514 male "" "" European "" 4514 Frontal face 2023-09-26 15:32:06 UTC 174265 http://rdf.ncbi.nlm.nih.gov/pubmed/174265 21 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3253 3253 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4514 male "" "" European "" 4514 Frontal face 2023-09-26 15:32:06 UTC 174265 http://rdf.ncbi.nlm.nih.gov/pubmed/174265 21 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3256 3256 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4517 female "" "" European "" 4517 Frontal face 2023-09-26 15:47:21 UTC 1453439 http://rdf.ncbi.nlm.nih.gov/pubmed/1453439 10 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3256 3256 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4517 female "" "" European "" 4517 Frontal face 2023-09-26 15:47:21 UTC 1453439 http://rdf.ncbi.nlm.nih.gov/pubmed/1453439 10 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3260 3260 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4521 female "" "" European "" 4521 Frontal face 2023-09-26 16:40:07 UTC 11891688 http://rdf.ncbi.nlm.nih.gov/pubmed/11891688 13 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3260 3260 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4521 female "" "" European "" 4521 Frontal face 2023-09-26 16:40:07 UTC 11891688 http://rdf.ncbi.nlm.nih.gov/pubmed/11891688 13 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3261 3261 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4522 male "" "" European "" 4522 Frontal face 2023-09-30 15:42:56 UTC 11891688 http://rdf.ncbi.nlm.nih.gov/pubmed/11891688 5 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3261 3261 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4522 male "" "" European "" 4522 Frontal face 2023-09-30 15:42:56 UTC 11891688 http://rdf.ncbi.nlm.nih.gov/pubmed/11891688 5 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3262 3262 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4523 female "" "" European "" 4523 Frontal face 2023-09-30 15:50:11 UTC 11891688 http://rdf.ncbi.nlm.nih.gov/pubmed/11891688 1 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3262 3262 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4523 female "" "" European "" 4523 Frontal face 2023-09-30 15:50:11 UTC 11891688 http://rdf.ncbi.nlm.nih.gov/pubmed/11891688 1 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3266 3266 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4527 female "" "" Unknown "" 4527 Frontal face 2023-09-26 09:34:06 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 17 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3266 3266 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4527 female "" "" Unknown "" 4527 Frontal face 2023-09-26 09:34:06 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 17 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3266 3266 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4528 female "" "" Unknown "" 4528 Frontal face 2023-09-26 09:34:13 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 17 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3266 3266 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4528 female "" "" Unknown "" 4528 Frontal face 2023-09-26 09:34:13 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 17 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3267 3267 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4529 male "" "" Unknown "" 4529 Frontal face 2023-09-26 09:37:22 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 9 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3267 3267 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4529 male "" "" Unknown "" 4529 Frontal face 2023-09-26 09:37:22 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 9 0 "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3267 3267 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4530 male "" "" Unknown "" 4530 Frontal face 2023-09-26 09:37:28 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 9 0 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3267 3267 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4530 male "" "" Unknown "" 4530 Frontal face 2023-09-26 09:37:28 UTC 19617216 http://rdf.ncbi.nlm.nih.gov/pubmed/19617216 9 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3269 3269 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4532 male "" "" Asian "" 4532 Frontal face 2023-10-11 17:53:14 UTC 136068 http://rdf.ncbi.nlm.nih.gov/pubmed/136068 4 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3269 3269 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4532 male "" "" Asian "" 4532 Frontal face 2023-10-11 17:53:14 UTC 136068 http://rdf.ncbi.nlm.nih.gov/pubmed/136068 4 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3274 3274 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4542 female "" "" Caucasian "" 4542 Frontal face 2023-10-12 15:01:54 UTC 2496743 http://rdf.ncbi.nlm.nih.gov/pubmed/2496743 5 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3274 3274 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4542 female "" "" Caucasian "" 4542 Frontal face 2023-10-12 15:01:54 UTC 2496743 http://rdf.ncbi.nlm.nih.gov/pubmed/2496743 5 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3275 3275 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4543 female "" "" European "" 4543 Frontal face 2023-10-12 15:12:00 UTC 2515507 http://rdf.ncbi.nlm.nih.gov/pubmed/2515507 18 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3275 3275 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4543 female "" "" European "" 4543 Frontal face 2023-10-12 15:12:00 UTC 2515507 http://rdf.ncbi.nlm.nih.gov/pubmed/2515507 18 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3276 3276 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4544 male "" "" European "" 4544 Frontal face 2023-10-12 15:32:36 UTC 3096273 http://rdf.ncbi.nlm.nih.gov/pubmed/3096273 25 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3276 3276 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4544 male "" "" European "" 4544 Frontal face 2023-10-12 15:32:36 UTC 3096273 http://rdf.ncbi.nlm.nih.gov/pubmed/3096273 25 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3277 3277 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4545 male "" "" European "" 4545 Frontal face 2023-10-12 15:33:06 UTC 3096273 http://rdf.ncbi.nlm.nih.gov/pubmed/3096273 21 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3277 3277 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4545 male "" "" European "" 4545 Frontal face 2023-10-12 15:33:06 UTC 3096273 http://rdf.ncbi.nlm.nih.gov/pubmed/3096273 21 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3281 3281 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4549 female "" "" Caucasian "" 4549 Frontal face 2023-10-15 10:46:25 UTC 6252949 http://rdf.ncbi.nlm.nih.gov/pubmed/6252949 6 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3281 3281 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4549 female "" "" Caucasian "" 4549 Frontal face 2023-10-15 10:46:25 UTC 6252949 http://rdf.ncbi.nlm.nih.gov/pubmed/6252949 6 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3283 3283 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4551 female "" "" Caucasian "" 4551 Frontal face 2023-10-15 11:17:23 UTC 8795456 http://rdf.ncbi.nlm.nih.gov/pubmed/8795456 14 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3283 3283 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4551 female "" "" Caucasian "" 4551 Frontal face 2023-10-15 11:17:23 UTC 8795456 http://rdf.ncbi.nlm.nih.gov/pubmed/8795456 14 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3284 3284 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4552 female "" "" Asian - South/Indian "" 4552 Frontal face 2023-10-15 11:32:10 UTC 9725536 http://rdf.ncbi.nlm.nih.gov/pubmed/9725536 6 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3284 3284 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4552 female "" "" Asian - South/Indian "" 4552 Frontal face 2023-10-15 11:32:10 UTC 9725536 http://rdf.ncbi.nlm.nih.gov/pubmed/9725536 6 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3285 3285 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4553 male "" "" Asian - South/Indian "" 4553 Frontal face 2023-10-15 11:46:59 UTC 10632918 http://rdf.ncbi.nlm.nih.gov/pubmed/10632918 9 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3285 3285 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4553 male "" "" Asian - South/Indian "" 4553 Frontal face 2023-10-15 11:46:59 UTC 10632918 http://rdf.ncbi.nlm.nih.gov/pubmed/10632918 9 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3287 3287 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4555 female "" "" European "" 4555 Frontal face 2023-10-15 12:12:15 UTC 16283671 http://rdf.ncbi.nlm.nih.gov/pubmed/16283671 7 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3287 3287 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4555 female "" "" European "" 4555 Frontal face 2023-10-15 12:12:15 UTC 16283671 http://rdf.ncbi.nlm.nih.gov/pubmed/16283671 7 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3290 3290 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4558 male "" "" Asian - West/Middle Eastern "" 4558 Frontal face 2023-10-15 12:54:08 UTC 17604658 http://rdf.ncbi.nlm.nih.gov/pubmed/17604658 13 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3290 3290 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4558 male "" "" Asian - West/Middle Eastern "" 4558 Frontal face 2023-10-15 12:54:08 UTC 17604658 http://rdf.ncbi.nlm.nih.gov/pubmed/17604658 13 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3295 3295 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4562 male "" "" American - Latin/Hispanic "" 4562 Frontal face 2023-10-15 15:03:58 UTC 23070190 http://rdf.ncbi.nlm.nih.gov/pubmed/23070190 4 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3295 3295 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4562 male "" "" American - Latin/Hispanic "" 4562 Frontal face 2023-10-15 15:03:58 UTC 23070190 http://rdf.ncbi.nlm.nih.gov/pubmed/23070190 4 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3295 3295 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4563 male "" "" American - Latin/Hispanic "" 4563 Frontal face 2023-10-15 15:04:13 UTC 23070190 http://rdf.ncbi.nlm.nih.gov/pubmed/23070190 10 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3295 3295 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4563 male "" "" American - Latin/Hispanic "" 4563 Frontal face 2023-10-15 15:04:13 UTC 23070190 http://rdf.ncbi.nlm.nih.gov/pubmed/23070190 10 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3300 3300 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4568 male "" "" Asian - South/Indian "" 4568 Frontal face 2023-10-16 11:45:18 UTC 24706723 http://rdf.ncbi.nlm.nih.gov/pubmed/24706723 12 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3300 3300 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4568 male "" "" Asian - South/Indian "" 4568 Frontal face 2023-10-16 11:45:18 UTC 24706723 http://rdf.ncbi.nlm.nih.gov/pubmed/24706723 12 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3300 3300 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4569 male "" "" Asian - South/Indian "" 4569 Frontal face 2023-10-16 11:45:30 UTC 24706723 http://rdf.ncbi.nlm.nih.gov/pubmed/24706723 12 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3300 3300 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4569 male "" "" Asian - South/Indian "" 4569 Frontal face 2023-10-16 11:45:30 UTC 24706723 http://rdf.ncbi.nlm.nih.gov/pubmed/24706723 12 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3302 3302 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4571 male "" "" Asian - South/Indian "" 4571 Frontal face 2023-10-19 16:06:57 UTC 27170613 http://rdf.ncbi.nlm.nih.gov/pubmed/27170613 16 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3302 3302 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4571 male "" "" Asian - South/Indian "" 4571 Frontal face 2023-10-19 16:06:57 UTC 27170613 http://rdf.ncbi.nlm.nih.gov/pubmed/27170613 16 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3303 3303 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4572 male "" "" Unknown "" 4572 Frontal face 2023-10-13 06:12:59 UTC 3922223 http://rdf.ncbi.nlm.nih.gov/pubmed/3922223 16 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3303 3303 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4572 male "" "" Unknown "" 4572 Frontal face 2023-10-13 06:12:59 UTC 3922223 http://rdf.ncbi.nlm.nih.gov/pubmed/3922223 16 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3307 3307 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4580 male "" "" Unknown "" 4580 Frontal face 2023-10-19 16:31:27 UTC 1906048 http://rdf.ncbi.nlm.nih.gov/pubmed/1906048 7 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3307 3307 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4580 male "" "" Unknown "" 4580 Frontal face 2023-10-19 16:31:27 UTC 1906048 http://rdf.ncbi.nlm.nih.gov/pubmed/1906048 7 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3309 3309 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4582 male "" "" European "" 4582 Frontal face 2023-10-19 16:52:52 UTC 18038146 http://rdf.ncbi.nlm.nih.gov/pubmed/18038146 6 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3309 3309 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4582 male "" "" European "" 4582 Frontal face 2023-10-19 16:52:52 UTC 18038146 http://rdf.ncbi.nlm.nih.gov/pubmed/18038146 6 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3309 3309 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4583 male "" "" European "" 4583 Frontal face 2023-10-19 16:53:02 UTC 18038146 http://rdf.ncbi.nlm.nih.gov/pubmed/18038146 12 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3309 3309 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4583 male "" "" European "" 4583 Frontal face 2023-10-19 16:53:02 UTC 18038146 http://rdf.ncbi.nlm.nih.gov/pubmed/18038146 12 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3315 3315 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4592 male "" "" Caucasian "" 4592 Frontal face 2023-12-16 13:37:04 UTC 22383073 http://rdf.ncbi.nlm.nih.gov/pubmed/22383073 5 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3315 3315 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4592 male "" "" Caucasian "" 4592 Frontal face 2023-12-16 13:37:04 UTC 22383073 http://rdf.ncbi.nlm.nih.gov/pubmed/22383073 5 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3316 3316 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4593 male "" "" Caucasian "" 4593 Frontal face 2023-12-16 14:02:25 UTC 22383073 http://rdf.ncbi.nlm.nih.gov/pubmed/22383073 13 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3316 3316 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4593 male "" "" Caucasian "" 4593 Frontal face 2023-12-16 14:02:25 UTC 22383073 http://rdf.ncbi.nlm.nih.gov/pubmed/22383073 13 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3319 3319 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4598 male "" "" European - Northwestern "" 4598 Frontal face 2023-12-16 15:13:47 UTC 1355630 http://rdf.ncbi.nlm.nih.gov/pubmed/1355630 8 6 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3319 3319 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4598 male "" "" European - Northwestern "" 4598 Frontal face 2023-12-16 15:13:47 UTC 1355630 http://rdf.ncbi.nlm.nih.gov/pubmed/1355630 8 6 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3319 3319 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4599 male "" "" European - Northwestern "" 4599 Frontal face 2023-12-16 15:13:58 UTC 1355630 http://rdf.ncbi.nlm.nih.gov/pubmed/1355630 8 6 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3319 3319 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4599 male "" "" European - Northwestern "" 4599 Frontal face 2023-12-16 15:13:58 UTC 1355630 http://rdf.ncbi.nlm.nih.gov/pubmed/1355630 8 6 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4600 male "" "" Asian "" 4600 Frontal face 2023-12-16 15:44:45 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 2 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4600 male "" "" Asian "" 4600 Frontal face 2023-12-16 15:44:45 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 2 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4601 male "" "" Asian "" 4601 Frontal face 2023-12-16 15:44:51 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 5 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4601 male "" "" Asian "" 4601 Frontal face 2023-12-16 15:44:51 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 5 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4602 male "" "" Asian "" 4602 Frontal face 2023-12-16 15:45:02 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 8 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4602 male "" "" Asian "" 4602 Frontal face 2023-12-16 15:45:02 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 8 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4603 male "" "" Asian "" 4603 Frontal face 2023-12-16 15:45:13 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 9 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4603 male "" "" Asian "" 4603 Frontal face 2023-12-16 15:45:13 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 9 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4604 male "" "" Asian "" 4604 Frontal face 2023-12-16 15:45:22 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 11 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4604 male "" "" Asian "" 4604 Frontal face 2023-12-16 15:45:22 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 11 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4605 male "" "" Asian "" 4605 Frontal face 2023-12-16 15:45:48 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 19 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4605 male "" "" Asian "" 4605 Frontal face 2023-12-16 15:45:48 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 19 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4606 male "" "" Asian "" 4606 Frontal face 2023-12-16 15:45:34 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 19 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3320 3320 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4606 male "" "" Asian "" 4606 Frontal face 2023-12-16 15:45:34 UTC 1454144 http://rdf.ncbi.nlm.nih.gov/pubmed/1454144 19 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3321 3321 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4607 male "" "" Unknown "" 4607 Frontal face 2023-12-16 15:49:20 UTC 2531225 http://rdf.ncbi.nlm.nih.gov/pubmed/2531225 13 7 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3321 3321 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4607 male "" "" Unknown "" 4607 Frontal face 2023-12-16 15:49:20 UTC 2531225 http://rdf.ncbi.nlm.nih.gov/pubmed/2531225 13 7 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3322 3322 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4608 male "" "" Arab "" 4608 Frontal face 2023-12-16 16:04:55 UTC 3095256 http://rdf.ncbi.nlm.nih.gov/pubmed/3095256 8 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3322 3322 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4608 male "" "" Arab "" 4608 Frontal face 2023-12-16 16:04:55 UTC 3095256 http://rdf.ncbi.nlm.nih.gov/pubmed/3095256 8 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3323 3323 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4609 male "" "" Unknown "" 4609 Frontal face 2023-12-16 16:16:14 UTC 25071396 http://rdf.ncbi.nlm.nih.gov/pubmed/25071396 2 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3323 3323 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4609 male "" "" Unknown "" 4609 Frontal face 2023-12-16 16:16:14 UTC 25071396 http://rdf.ncbi.nlm.nih.gov/pubmed/25071396 2 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3325 3325 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4611 male "" "" European "" 4611 Frontal face 2023-12-16 16:30:20 UTC 6402005 http://rdf.ncbi.nlm.nih.gov/pubmed/6402005 34 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3325 3325 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4611 male "" "" European "" 4611 Frontal face 2023-12-16 16:30:20 UTC 6402005 http://rdf.ncbi.nlm.nih.gov/pubmed/6402005 34 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3325 3325 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4612 male "" "" European "" 4612 Frontal face 2023-12-16 16:30:42 UTC 6402005 http://rdf.ncbi.nlm.nih.gov/pubmed/6402005 34 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3325 3325 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4612 male "" "" European "" 4612 Frontal face 2023-12-16 16:30:42 UTC 6402005 http://rdf.ncbi.nlm.nih.gov/pubmed/6402005 34 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3327 3327 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4615 male "" "" African "" 4615 Frontal face 2023-12-17 11:23:33 UTC 146740 http://rdf.ncbi.nlm.nih.gov/pubmed/146740 2 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3327 3327 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4615 male "" "" African "" 4615 Frontal face 2023-12-17 11:23:33 UTC 146740 http://rdf.ncbi.nlm.nih.gov/pubmed/146740 2 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3328 3328 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4616 male "" "" European "" 4616 Frontal face 2023-12-17 11:47:52 UTC 150330 http://rdf.ncbi.nlm.nih.gov/pubmed/150330 25 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3328 3328 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4616 male "" "" European "" 4616 Frontal face 2023-12-17 11:47:52 UTC 150330 http://rdf.ncbi.nlm.nih.gov/pubmed/150330 25 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3329 3329 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4617 male "" "" European "" 4617 Frontal face 2023-12-17 12:07:51 UTC 150330 http://rdf.ncbi.nlm.nih.gov/pubmed/150330 8 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3329 3329 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4617 male "" "" European "" 4617 Frontal face 2023-12-17 12:07:51 UTC 150330 http://rdf.ncbi.nlm.nih.gov/pubmed/150330 8 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3336 3336 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4624 male "" "" Unknown "" 4624 Frontal face 2023-12-17 14:21:14 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 20 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3336 3336 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4624 male "" "" Unknown "" 4624 Frontal face 2023-12-17 14:21:14 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 20 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3337 3337 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4625 male "" "" Unknown "" 4625 Frontal face 2023-12-17 14:23:07 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 17 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3337 3337 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4625 male "" "" Unknown "" 4625 Frontal face 2023-12-17 14:23:07 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 17 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3338 3338 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4626 male "" "" Unknown "" 4626 Frontal face 2023-12-17 14:31:49 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 22 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3338 3338 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4626 male "" "" Unknown "" 4626 Frontal face 2023-12-17 14:31:49 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 22 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3339 3339 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4627 male "" "" European "" 4627 Frontal face 2023-12-17 14:34:56 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 12 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3339 3339 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4627 male "" "" European "" 4627 Frontal face 2023-12-17 14:34:56 UTC 6816147 http://rdf.ncbi.nlm.nih.gov/pubmed/6816147 12 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3340 3340 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4628 male "" "" European "" 4628 Frontal face 2023-12-17 11:55:53 UTC 150330 http://rdf.ncbi.nlm.nih.gov/pubmed/150330 9 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3340 3340 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4628 male "" "" European "" 4628 Frontal face 2023-12-17 11:55:53 UTC 150330 http://rdf.ncbi.nlm.nih.gov/pubmed/150330 9 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3340 3340 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4629 male "" "" European "" 4629 Frontal face 2023-12-17 11:56:04 UTC 150330 http://rdf.ncbi.nlm.nih.gov/pubmed/150330 7 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3340 3340 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4629 male "" "" European "" 4629 Frontal face 2023-12-17 11:56:04 UTC 150330 http://rdf.ncbi.nlm.nih.gov/pubmed/150330 7 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3395 3395 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4708 male "" "" Caucasian "" 4708 Frontal face 2023-12-22 10:55:43 UTC 23059855 http://rdf.ncbi.nlm.nih.gov/pubmed/23059855 0 10 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3395 3395 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4708 male "" "" Caucasian "" 4708 Frontal face 2023-12-22 10:55:43 UTC 23059855 http://rdf.ncbi.nlm.nih.gov/pubmed/23059855 0 10 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3395 3395 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4709 male "" "" Caucasian "" 4709 Frontal face 2023-12-22 10:55:51 UTC 23059855 http://rdf.ncbi.nlm.nih.gov/pubmed/23059855 33 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3395 3395 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4709 male "" "" Caucasian "" 4709 Frontal face 2023-12-22 10:55:51 UTC 23059855 http://rdf.ncbi.nlm.nih.gov/pubmed/23059855 33 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3399 3399 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4713 unknown "" "" European "" 4713 Frontal face 2023-12-22 11:19:58 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 2 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3399 3399 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4713 unknown "" "" European "" 4713 Frontal face 2023-12-22 11:19:58 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 2 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4716 female "" "" European "" 4716 Frontal face 2023-12-22 11:21:28 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 5 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4716 female "" "" European "" 4716 Frontal face 2023-12-22 11:21:28 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 5 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4717 female "" "" European "" 4717 Frontal face 2023-12-22 11:21:39 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 10 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4717 female "" "" European "" 4717 Frontal face 2023-12-22 11:21:39 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 10 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4718 female "" "" European "" 4718 Frontal face 2023-12-22 11:21:46 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 15 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4718 female "" "" European "" 4718 Frontal face 2023-12-22 11:21:46 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 15 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4719 female "" "" European "" 4719 Frontal face 2023-12-22 11:21:54 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 23 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3401 3401 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4719 female "" "" European "" 4719 Frontal face 2023-12-22 11:21:54 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 23 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4720 female "" "" European "" 4720 Frontal face 2023-12-22 11:22:27 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 0 3 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4720 female "" "" European "" 4720 Frontal face 2023-12-22 11:22:27 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 0 3 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4721 female "" "" European "" 4721 Frontal face 2023-12-22 11:22:37 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 2 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4721 female "" "" European "" 4721 Frontal face 2023-12-22 11:22:37 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 2 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4722 female "" "" European "" 4722 Frontal face 2023-12-22 11:22:44 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 7 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4722 female "" "" European "" 4722 Frontal face 2023-12-22 11:22:44 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 7 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4723 female "" "" European "" 4723 Frontal face 2023-12-22 11:22:49 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 9 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4723 female "" "" European "" 4723 Frontal face 2023-12-22 11:22:49 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 9 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4724 female "" "" European "" 4724 Frontal face 2023-12-22 11:22:56 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 19 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3402 3402 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4724 female "" "" European "" 4724 Frontal face 2023-12-22 11:22:56 UTC 22438180 http://rdf.ncbi.nlm.nih.gov/pubmed/22438180 19 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3409 3409 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4732 male "" "" Asian - South/Indian "" 4732 Frontal face 2023-12-26 08:45:16 UTC 23426833 http://rdf.ncbi.nlm.nih.gov/pubmed/23426833 0 5 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3409 3409 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4732 male "" "" Asian - South/Indian "" 4732 Frontal face 2023-12-26 08:45:16 UTC 23426833 http://rdf.ncbi.nlm.nih.gov/pubmed/23426833 0 5 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3412 3412 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4735 female "" "" Caucasian "" 4735 Frontal face 2023-12-26 09:02:49 UTC 1605242 http://rdf.ncbi.nlm.nih.gov/pubmed/1605242 0 1 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3412 3412 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4735 female "" "" Caucasian "" 4735 Frontal face 2023-12-26 09:02:49 UTC 1605242 http://rdf.ncbi.nlm.nih.gov/pubmed/1605242 0 1 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3413 3413 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4736 female "" "" Caucasian "" 4736 Frontal face 2024-01-07 11:13:23 UTC 1605242 http://rdf.ncbi.nlm.nih.gov/pubmed/1605242 0 3 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3413 3413 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4736 female "" "" Caucasian "" 4736 Frontal face 2024-01-07 11:13:23 UTC 1605242 http://rdf.ncbi.nlm.nih.gov/pubmed/1605242 0 3 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3413 3413 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4737 female "" "" Caucasian "" 4737 Frontal face 2024-01-07 11:13:40 UTC 1605242 http://rdf.ncbi.nlm.nih.gov/pubmed/1605242 1 11 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3413 3413 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4737 female "" "" Caucasian "" 4737 Frontal face 2024-01-07 11:13:40 UTC 1605242 http://rdf.ncbi.nlm.nih.gov/pubmed/1605242 1 11 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3417 3417 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4741 male "" "" Caucasian "" 4741 Frontal face 2024-01-07 12:24:01 UTC 3018967 http://rdf.ncbi.nlm.nih.gov/pubmed/3018967 0 3 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3417 3417 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4741 male "" "" Caucasian "" 4741 Frontal face 2024-01-07 12:24:01 UTC 3018967 http://rdf.ncbi.nlm.nih.gov/pubmed/3018967 0 3 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3418 3418 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4742 female "" "" Caucasian "" 4742 Frontal face 2024-01-08 10:24:49 UTC 3018967 http://rdf.ncbi.nlm.nih.gov/pubmed/3018967 1 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3418 3418 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4742 female "" "" Caucasian "" 4742 Frontal face 2024-01-08 10:24:49 UTC 3018967 http://rdf.ncbi.nlm.nih.gov/pubmed/3018967 1 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3419 3419 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4743 female "" "" Caucasian "" 4743 Frontal face 2024-01-08 10:30:14 UTC 3018967 http://rdf.ncbi.nlm.nih.gov/pubmed/3018967 1 3 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3419 3419 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4743 female "" "" Caucasian "" 4743 Frontal face 2024-01-08 10:30:14 UTC 3018967 http://rdf.ncbi.nlm.nih.gov/pubmed/3018967 1 3 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3420 3420 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4744 male "" "" Caucasian "" 4744 Frontal face 2024-01-08 10:34:30 UTC 3018967 http://rdf.ncbi.nlm.nih.gov/pubmed/3018967 2 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3420 3420 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4744 male "" "" Caucasian "" 4744 Frontal face 2024-01-08 10:34:30 UTC 3018967 http://rdf.ncbi.nlm.nih.gov/pubmed/3018967 2 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3422 3422 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4747 male "" "" Caucasian "" 4747 Frontal face 2024-01-11 17:36:57 UTC 5303264 http://rdf.ncbi.nlm.nih.gov/pubmed/5303264 6 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3422 3422 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4747 male "" "" Caucasian "" 4747 Frontal face 2024-01-11 17:36:57 UTC 5303264 http://rdf.ncbi.nlm.nih.gov/pubmed/5303264 6 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3449 3449 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4777 female "" "" Caucasian "" 4777 Frontal face 2024-01-14 15:53:30 UTC 12887150 http://rdf.ncbi.nlm.nih.gov/pubmed/12887150 21 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3449 3449 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4777 female "" "" Caucasian "" 4777 Frontal face 2024-01-14 15:53:30 UTC 12887150 http://rdf.ncbi.nlm.nih.gov/pubmed/12887150 21 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3457 3457 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4788 male "" "" Caucasian "" 4788 Frontal face 2024-01-14 19:34:49 UTC 14119520 http://rdf.ncbi.nlm.nih.gov/pubmed/14119520 0 9 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3457 3457 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4788 male "" "" Caucasian "" 4788 Frontal face 2024-01-14 19:34:49 UTC 14119520 http://rdf.ncbi.nlm.nih.gov/pubmed/14119520 0 9 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3458 3458 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4789 male "" "" Caucasian "" 4789 Frontal face 2024-01-14 19:35:20 UTC 14119520 http://rdf.ncbi.nlm.nih.gov/pubmed/14119520 5 2 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3458 3458 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4789 male "" "" Caucasian "" 4789 Frontal face 2024-01-14 19:35:20 UTC 14119520 http://rdf.ncbi.nlm.nih.gov/pubmed/14119520 5 2 "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3228 3228 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4482 male "" "" Asian "" 4482 Frontal face 2022-04-18 21:44:35 UTC 3594472 http://rdf.ncbi.nlm.nih.gov/pubmed/3594472 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3228 3228 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4482 male "" "" Asian "" 4482 Frontal face 2022-04-18 21:44:35 UTC 3594472 http://rdf.ncbi.nlm.nih.gov/pubmed/3594472 "" "" "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3263 3263 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4524 male "" "" Unknown "" 4524 Frontal face 2022-04-18 21:44:35 UTC 12564313 http://rdf.ncbi.nlm.nih.gov/pubmed/12564313 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3263 3263 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4524 male "" "" Unknown "" 4524 Frontal face 2022-04-18 21:44:35 UTC 12564313 http://rdf.ncbi.nlm.nih.gov/pubmed/12564313 "" "" "" NANDO:2200567 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3264 3264 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4525 female "" "" Caucasian "" 4525 Frontal face 2022-04-18 21:44:35 UTC 16041526 http://rdf.ncbi.nlm.nih.gov/pubmed/16041526 "" "" "" NANDO:1200124 MONDO:0009650 OMIM:252500 https://db.gestaltmatcher.org/patients/3264 3264 MUCOLIPIDOSIS II ALPHA/BETA https://db.gestaltmatcher.org/patients/image_4525 female "" "" Caucasian "" 4525 Frontal face 2022-04-18 21:44:35 UTC 16041526 http://rdf.ncbi.nlm.nih.gov/pubmed/16041526 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3270 3270 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4533 female "" "" Caucasian "" 4533 Frontal face 2022-04-18 21:44:35 UTC 811694 http://rdf.ncbi.nlm.nih.gov/pubmed/811694 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3270 3270 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4533 female "" "" Caucasian "" 4533 Frontal face 2022-04-18 21:44:35 UTC 811694 http://rdf.ncbi.nlm.nih.gov/pubmed/811694 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3282 3282 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4550 male "" "" American - Latin/Hispanic "" 4550 Frontal face 2022-04-18 21:44:35 UTC 8256803 http://rdf.ncbi.nlm.nih.gov/pubmed/8256803 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3282 3282 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4550 male "" "" American - Latin/Hispanic "" 4550 Frontal face 2022-04-18 21:44:35 UTC 8256803 http://rdf.ncbi.nlm.nih.gov/pubmed/8256803 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3304 3304 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4573 female "" "" Unknown "" 4573 Frontal face 2022-04-18 21:44:35 UTC 813180 http://rdf.ncbi.nlm.nih.gov/pubmed/813180 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3304 3304 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4573 female "" "" Unknown "" 4573 Frontal face 2022-04-18 21:44:35 UTC 813180 http://rdf.ncbi.nlm.nih.gov/pubmed/813180 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3311 3311 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4586 male "" "" Asian "" 4586 Frontal face 2022-04-18 21:44:35 UTC 24908534 http://rdf.ncbi.nlm.nih.gov/pubmed/24908534 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3311 3311 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4586 male "" "" Asian "" 4586 Frontal face 2022-04-18 21:44:35 UTC 24908534 http://rdf.ncbi.nlm.nih.gov/pubmed/24908534 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3311 3311 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4587 male "" "" Asian "" 4587 Frontal face 2022-04-18 21:44:35 UTC 24908534 http://rdf.ncbi.nlm.nih.gov/pubmed/24908534 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3311 3311 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4587 male "" "" Asian "" 4587 Frontal face 2022-04-18 21:44:35 UTC 24908534 http://rdf.ncbi.nlm.nih.gov/pubmed/24908534 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3324 3324 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4610 male "" "" Unknown "" 4610 Frontal face 2022-04-18 21:44:35 UTC 25071396 http://rdf.ncbi.nlm.nih.gov/pubmed/25071396 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3324 3324 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4610 male "" "" Unknown "" 4610 Frontal face 2022-04-18 21:44:35 UTC 25071396 http://rdf.ncbi.nlm.nih.gov/pubmed/25071396 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3325 3325 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4613 male "" "" European "" 4613 Frontal face 2022-04-18 21:44:35 UTC 6402005 http://rdf.ncbi.nlm.nih.gov/pubmed/6402005 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3325 3325 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4613 male "" "" European "" 4613 Frontal face 2022-04-18 21:44:35 UTC 6402005 http://rdf.ncbi.nlm.nih.gov/pubmed/6402005 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3421 3421 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4745 male "" "" "" "" 4745 Frontal face 2024-01-08 10:42:15 UTC 3425638 http://rdf.ncbi.nlm.nih.gov/pubmed/3425638 0 0 newborn NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3421 3421 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4745 male "" "" "" "" 4745 Frontal face 2024-01-08 10:42:15 UTC 3425638 http://rdf.ncbi.nlm.nih.gov/pubmed/3425638 0 0 newborn NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3423 3423 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4748 female "" "" "" "" 4748 Frontal face 2024-01-11 17:50:05 UTC 7295150 http://rdf.ncbi.nlm.nih.gov/pubmed/7295150 0 0 11d NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3423 3423 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4748 female "" "" "" "" 4748 Frontal face 2024-01-11 17:50:05 UTC 7295150 http://rdf.ncbi.nlm.nih.gov/pubmed/7295150 0 0 11d NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3427 3427 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4752 female "" "" "" "" 4752 Frontal face 2024-01-11 18:50:07 UTC 7778590 http://rdf.ncbi.nlm.nih.gov/pubmed/7778590 0 0 1d NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3427 3427 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4752 female "" "" "" "" 4752 Frontal face 2024-01-11 18:50:07 UTC 7778590 http://rdf.ncbi.nlm.nih.gov/pubmed/7778590 0 0 1d NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3439 3439 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4767 female "" "" "" "" 4767 Frontal face 2024-01-13 15:43:46 UTC 10447131 http://rdf.ncbi.nlm.nih.gov/pubmed/10447131 0 0 3w NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3439 3439 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4767 female "" "" "" "" 4767 Frontal face 2024-01-13 15:43:46 UTC 10447131 http://rdf.ncbi.nlm.nih.gov/pubmed/10447131 0 0 3w NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3451 3451 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4779 female "" "" "" "" 4779 Frontal face 2024-01-14 16:30:44 UTC 15877207 http://rdf.ncbi.nlm.nih.gov/pubmed/15877207 0 0 3d NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3451 3451 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4779 female "" "" "" "" 4779 Frontal face 2024-01-14 16:30:44 UTC 15877207 http://rdf.ncbi.nlm.nih.gov/pubmed/15877207 0 0 3d NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3392 3392 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_14783 female "" "" "" "" 14783 Frontal face 2023-06-12 12:01:57 UTC 20929975 http://rdf.ncbi.nlm.nih.gov/pubmed/20929975 0 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3392 3392 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_14783 female "" "" "" "" 14783 Frontal face 2023-06-12 12:01:57 UTC 20929975 http://rdf.ncbi.nlm.nih.gov/pubmed/20929975 0 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3268 3268 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4531 female "" "" "" "" 4531 Frontal face 2023-10-11 17:49:13 UTC 115668 http://rdf.ncbi.nlm.nih.gov/pubmed/115668 34 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3268 3268 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4531 female "" "" "" "" 4531 Frontal face 2023-10-11 17:49:13 UTC 115668 http://rdf.ncbi.nlm.nih.gov/pubmed/115668 34 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3278 3278 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4546 female "" "" "" "" 4546 Frontal face 2023-10-12 15:44:52 UTC 3922223 http://rdf.ncbi.nlm.nih.gov/pubmed/3922223 9 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3278 3278 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4546 female "" "" "" "" 4546 Frontal face 2023-10-12 15:44:52 UTC 3922223 http://rdf.ncbi.nlm.nih.gov/pubmed/3922223 9 0 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3279 3279 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4547 male "" "" "" "" 4547 Frontal face 2023-10-13 06:01:01 UTC 3922223 http://rdf.ncbi.nlm.nih.gov/pubmed/3922223 0 4 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3279 3279 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4547 male "" "" "" "" 4547 Frontal face 2023-10-13 06:01:01 UTC 3922223 http://rdf.ncbi.nlm.nih.gov/pubmed/3922223 0 4 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3280 3280 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4548 female "" "" "" "" 4548 Frontal face 2023-10-13 06:02:25 UTC 3922223 http://rdf.ncbi.nlm.nih.gov/pubmed/3922223 8 0 "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3280 3280 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4548 female "" "" "" "" 4548 Frontal face 2023-10-13 06:02:25 UTC 3922223 http://rdf.ncbi.nlm.nih.gov/pubmed/3922223 8 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3305 3305 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4574 male "" "" "" "" 4574 Frontal face 2023-10-19 16:21:16 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 0 6 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3305 3305 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4574 male "" "" "" "" 4574 Frontal face 2023-10-19 16:21:16 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 0 6 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3305 3305 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4575 male "" "" "" "" 4575 Frontal face 2023-10-19 16:21:24 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 5 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3305 3305 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4575 male "" "" "" "" 4575 Frontal face 2023-10-19 16:21:24 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 5 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3305 3305 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4576 male "" "" "" "" 4576 Frontal face 2023-10-19 16:21:31 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 9 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3305 3305 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4576 male "" "" "" "" 4576 Frontal face 2023-10-19 16:21:31 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 9 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3305 3305 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4577 male "" "" "" "" 4577 Frontal face 2023-10-19 16:21:43 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 30 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3305 3305 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4577 male "" "" "" "" 4577 Frontal face 2023-10-19 16:21:43 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 30 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3306 3306 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4578 male "" "" "" "" 4578 Frontal face 2023-10-19 16:27:06 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 14 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3306 3306 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4578 male "" "" "" "" 4578 Frontal face 2023-10-19 16:27:06 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 14 0 "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3306 3306 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4579 male "" "" "" "" 4579 Frontal face 2023-10-19 16:27:13 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 14 0 "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3306 3306 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4579 male "" "" "" "" 4579 Frontal face 2023-10-19 16:27:13 UTC 18245410 http://rdf.ncbi.nlm.nih.gov/pubmed/18245410 14 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3391 3391 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4704 male "" "" "" "" 4704 Frontal face 2023-12-20 11:27:36 UTC 23622407 http://rdf.ncbi.nlm.nih.gov/pubmed/23622407 6 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3391 3391 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4704 male "" "" "" "" 4704 Frontal face 2023-12-20 11:27:36 UTC 23622407 http://rdf.ncbi.nlm.nih.gov/pubmed/23622407 6 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3397 3397 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4711 female "" "" "" "" 4711 Frontal face 2024-01-15 16:29:56 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 1 2 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3397 3397 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4711 female "" "" "" "" 4711 Frontal face 2024-01-15 16:29:56 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 1 2 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3398 3398 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4712 male "" "" "" "" 4712 Frontal face 2024-01-15 16:33:58 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 11 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3398 3398 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4712 male "" "" "" "" 4712 Frontal face 2024-01-15 16:33:58 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 11 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3414 3414 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4738 female "" "" "" "" 4738 Frontal face 2024-01-07 11:44:14 UTC 1773539 http://rdf.ncbi.nlm.nih.gov/pubmed/1773539 2 6 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3414 3414 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4738 female "" "" "" "" 4738 Frontal face 2024-01-07 11:44:14 UTC 1773539 http://rdf.ncbi.nlm.nih.gov/pubmed/1773539 2 6 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3415 3415 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4739 male "" "" "" "" 4739 Frontal face 2024-01-07 11:47:01 UTC 2596525 http://rdf.ncbi.nlm.nih.gov/pubmed/2596525 10 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3415 3415 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4739 male "" "" "" "" 4739 Frontal face 2024-01-07 11:47:01 UTC 2596525 http://rdf.ncbi.nlm.nih.gov/pubmed/2596525 10 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3421 3421 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4746 male "" "" "" "" 4746 Frontal face 2024-01-08 10:42:08 UTC 3425638 http://rdf.ncbi.nlm.nih.gov/pubmed/3425638 0 7 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3421 3421 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4746 male "" "" "" "" 4746 Frontal face 2024-01-08 10:42:08 UTC 3425638 http://rdf.ncbi.nlm.nih.gov/pubmed/3425638 0 7 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3426 3426 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4751 male "" "" "" "" 4751 Frontal face 2024-01-11 18:26:00 UTC 7778590 http://rdf.ncbi.nlm.nih.gov/pubmed/7778590 2 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3426 3426 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4751 male "" "" "" "" 4751 Frontal face 2024-01-11 18:26:00 UTC 7778590 http://rdf.ncbi.nlm.nih.gov/pubmed/7778590 2 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3429 3429 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4754 female "" "" "" "" 4754 Frontal face 2024-01-11 18:56:50 UTC 8209913 http://rdf.ncbi.nlm.nih.gov/pubmed/8209913 1 2 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3429 3429 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4754 female "" "" "" "" 4754 Frontal face 2024-01-11 18:56:50 UTC 8209913 http://rdf.ncbi.nlm.nih.gov/pubmed/8209913 1 2 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3431 3431 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4756 female "" "" "" "" 4756 Frontal face 2024-01-13 14:12:16 UTC 9024566 http://rdf.ncbi.nlm.nih.gov/pubmed/9024566 3 8 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3431 3431 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4756 female "" "" "" "" 4756 Frontal face 2024-01-13 14:12:16 UTC 9024566 http://rdf.ncbi.nlm.nih.gov/pubmed/9024566 3 8 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3432 3432 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4757 female "" "" "" "" 4757 Frontal face 2024-01-13 14:12:38 UTC 9024566 http://rdf.ncbi.nlm.nih.gov/pubmed/9024566 3 8 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3432 3432 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4757 female "" "" "" "" 4757 Frontal face 2024-01-13 14:12:38 UTC 9024566 http://rdf.ncbi.nlm.nih.gov/pubmed/9024566 3 8 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3433 3433 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4758 female "" "" "" "" 4758 Frontal face 2024-01-13 14:23:50 UTC 9024566 http://rdf.ncbi.nlm.nih.gov/pubmed/9024566 4 8 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3433 3433 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4758 female "" "" "" "" 4758 Frontal face 2024-01-13 14:23:50 UTC 9024566 http://rdf.ncbi.nlm.nih.gov/pubmed/9024566 4 8 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3459 3459 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4790 male "" "" "" "" 4790 Frontal face 2024-01-15 16:34:59 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 3 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3459 3459 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4790 male "" "" "" "" 4790 Frontal face 2024-01-15 16:34:59 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 3 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3460 3460 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4791 female "" "" "" "" 4791 Frontal face 2024-01-15 16:36:36 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 28 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3460 3460 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4791 female "" "" "" "" 4791 Frontal face 2024-01-15 16:36:36 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 28 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3461 3461 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4792 male "" "" "" "" 4792 Frontal face 2024-01-15 16:37:19 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 33 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3461 3461 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4792 male "" "" "" "" 4792 Frontal face 2024-01-15 16:37:19 UTC 23059950 http://rdf.ncbi.nlm.nih.gov/pubmed/23059950 33 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/3293 3293 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_4793 male "" "" "" "" 4793 Frontal face 2024-01-15 16:45:50 UTC 22672476 http://rdf.ncbi.nlm.nih.gov/pubmed/22672476 19 0 "" NANDO:1200094 MONDO:0011758 OMIM:607014 https://db.gestaltmatcher.org/patients/3294 3294 HURLER SYNDROME https://db.gestaltmatcher.org/patients/image_4794 male "" "" "" "" 4794 Frontal face 2024-01-15 16:49:05 UTC 22672476 http://rdf.ncbi.nlm.nih.gov/pubmed/22672476 8 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3463 3463 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_4800 unknown "" "" "" "" 4800 Frontal face 2022-02-25 18:58:15 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 0 2 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3491 3491 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_4837 unknown "" "" "" "" 4837 Frontal face 2022-02-25 22:39:32 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 0 9 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3492 3492 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_4838 unknown "" "" "" "" 4838 Frontal face 2022-02-25 22:39:33 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 2 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3493 3493 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_4839 unknown "" "" "" "" 4839 Frontal face 2022-02-25 22:39:36 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 3 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3494 3494 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_4840 unknown "" "" "" "" 4840 Frontal face 2022-02-25 22:39:36 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 0 1 "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3271 3271 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4534 male "" "" "" "" 4534 Frontal face 2022-04-18 21:44:35 UTC 813180 http://rdf.ncbi.nlm.nih.gov/pubmed/813180 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3271 3271 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4534 male "" "" "" "" 4534 Frontal face 2022-04-18 21:44:35 UTC 813180 http://rdf.ncbi.nlm.nih.gov/pubmed/813180 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3272 3272 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4535 male "" "" "" "" 4535 Frontal face 2022-04-18 21:44:35 UTC 813180 http://rdf.ncbi.nlm.nih.gov/pubmed/813180 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3272 3272 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4535 male "" "" "" "" 4535 Frontal face 2022-04-18 21:44:35 UTC 813180 http://rdf.ncbi.nlm.nih.gov/pubmed/813180 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4536 female "" "" "" "" 4536 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4536 female "" "" "" "" 4536 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4537 female "" "" "" "" 4537 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4537 female "" "" "" "" 4537 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4538 female "" "" "" "" 4538 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4538 female "" "" "" "" 4538 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4539 female "" "" "" "" 4539 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4539 female "" "" "" "" 4539 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4540 female "" "" "" "" 4540 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4540 female "" "" "" "" 4540 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4541 female "" "" "" "" 4541 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3273 3273 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4541 female "" "" "" "" 4541 Frontal face 2022-04-18 21:44:35 UTC 824566 http://rdf.ncbi.nlm.nih.gov/pubmed/824566 "" "" "" NANDO:1200095 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3301 3301 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4570 female "" "" "" "" 4570 Frontal face 2022-04-18 21:44:35 UTC 9449925 http://rdf.ncbi.nlm.nih.gov/pubmed/9449925 "" "" "" NANDO:2201169 MONDO:0011760 OMIM:607016 https://db.gestaltmatcher.org/patients/3301 3301 SCHEIE SYNDROME https://db.gestaltmatcher.org/patients/image_4570 female "" "" "" "" 4570 Frontal face 2022-04-18 21:44:35 UTC 9449925 http://rdf.ncbi.nlm.nih.gov/pubmed/9449925 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3326 3326 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4614 male "" "" "" "" 4614 Frontal face 2022-04-18 21:44:35 UTC 404968 http://rdf.ncbi.nlm.nih.gov/pubmed/404968 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3326 3326 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4614 male "" "" "" "" 4614 Frontal face 2022-04-18 21:44:35 UTC 404968 http://rdf.ncbi.nlm.nih.gov/pubmed/404968 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3330 3330 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4618 male "" "" "" "" 4618 Frontal face 2022-04-18 21:44:35 UTC 21518713 http://rdf.ncbi.nlm.nih.gov/pubmed/21518713 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3330 3330 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4618 male "" "" "" "" 4618 Frontal face 2022-04-18 21:44:35 UTC 21518713 http://rdf.ncbi.nlm.nih.gov/pubmed/21518713 "" "" "" NANDO:1200097 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3331 3331 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4619 male "" "" "" "" 4619 Frontal face 2022-04-18 21:44:35 UTC 17345555 http://rdf.ncbi.nlm.nih.gov/pubmed/17345555 "" "" "" NANDO:2200548 MONDO:0010674 OMIM:309900 https://db.gestaltmatcher.org/patients/3331 3331 MUCOPOLYSACCHARIDOSIS, TYPE II https://db.gestaltmatcher.org/patients/image_4619 male "" "" "" "" 4619 Frontal face 2022-04-18 21:44:35 UTC 17345555 http://rdf.ncbi.nlm.nih.gov/pubmed/17345555 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3392 3392 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4705 female "" "" "" "" 4705 Frontal face 2022-04-18 21:44:35 UTC 20929975 http://rdf.ncbi.nlm.nih.gov/pubmed/20929975 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3392 3392 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4705 female "" "" "" "" 4705 Frontal face 2022-04-18 21:44:35 UTC 20929975 http://rdf.ncbi.nlm.nih.gov/pubmed/20929975 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3393 3393 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4706 male "" "" "" "" 4706 Frontal face 2022-04-18 21:44:35 UTC 20929975 http://rdf.ncbi.nlm.nih.gov/pubmed/20929975 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3393 3393 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4706 male "" "" "" "" 4706 Frontal face 2022-04-18 21:44:35 UTC 20929975 http://rdf.ncbi.nlm.nih.gov/pubmed/20929975 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3394 3394 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4707 male "" "" "" "" 4707 Frontal face 2022-04-18 21:44:35 UTC 20929975 http://rdf.ncbi.nlm.nih.gov/pubmed/20929975 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3394 3394 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4707 male "" "" "" "" 4707 Frontal face 2022-04-18 21:44:35 UTC 20929975 http://rdf.ncbi.nlm.nih.gov/pubmed/20929975 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3403 3403 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4725 male "" "" "" "" 4725 Frontal face 2022-04-18 21:44:35 UTC 25165593 http://rdf.ncbi.nlm.nih.gov/pubmed/25165593 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3403 3403 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4725 male "" "" "" "" 4725 Frontal face 2022-04-18 21:44:35 UTC 25165593 http://rdf.ncbi.nlm.nih.gov/pubmed/25165593 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3404 3404 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4726 male "" "" "" "" 4726 Frontal face 2022-04-18 21:44:35 UTC 18285838 http://rdf.ncbi.nlm.nih.gov/pubmed/18285838 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3404 3404 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4726 male "" "" "" "" 4726 Frontal face 2022-04-18 21:44:35 UTC 18285838 http://rdf.ncbi.nlm.nih.gov/pubmed/18285838 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3405 3405 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4727 female "" "" "" "" 4727 Frontal face 2022-04-18 21:44:35 UTC 18285838 http://rdf.ncbi.nlm.nih.gov/pubmed/18285838 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3405 3405 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4727 female "" "" "" "" 4727 Frontal face 2022-04-18 21:44:35 UTC 18285838 http://rdf.ncbi.nlm.nih.gov/pubmed/18285838 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3406 3406 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4728 male "" "" "" "" 4728 Frontal face 2022-04-18 21:44:35 UTC 18285838 http://rdf.ncbi.nlm.nih.gov/pubmed/18285838 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3406 3406 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4728 male "" "" "" "" 4728 Frontal face 2022-04-18 21:44:35 UTC 18285838 http://rdf.ncbi.nlm.nih.gov/pubmed/18285838 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3408 3408 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4730 male "" "" "" "" 4730 Frontal face 2022-04-18 21:44:35 UTC 16955133 http://rdf.ncbi.nlm.nih.gov/pubmed/16955133 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3408 3408 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4730 male "" "" "" "" 4730 Frontal face 2022-04-18 21:44:35 UTC 16955133 http://rdf.ncbi.nlm.nih.gov/pubmed/16955133 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3408 3408 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4731 male "" "" "" "" 4731 Frontal face 2022-04-18 21:44:35 UTC 16955133 http://rdf.ncbi.nlm.nih.gov/pubmed/16955133 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3408 3408 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4731 male "" "" "" "" 4731 Frontal face 2022-04-18 21:44:35 UTC 16955133 http://rdf.ncbi.nlm.nih.gov/pubmed/16955133 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3410 3410 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4733 male "" "" "" "" 4733 Frontal face 2022-04-18 21:44:35 UTC 21777499 http://rdf.ncbi.nlm.nih.gov/pubmed/21777499 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3410 3410 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4733 male "" "" "" "" 4733 Frontal face 2022-04-18 21:44:35 UTC 21777499 http://rdf.ncbi.nlm.nih.gov/pubmed/21777499 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3411 3411 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4734 female "" "" "" "" 4734 Frontal face 2022-04-18 21:44:35 UTC 21777499 http://rdf.ncbi.nlm.nih.gov/pubmed/21777499 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3411 3411 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4734 female "" "" "" "" 4734 Frontal face 2022-04-18 21:44:35 UTC 21777499 http://rdf.ncbi.nlm.nih.gov/pubmed/21777499 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3416 3416 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4740 male "" "" "" "" 4740 Frontal face 2022-04-18 21:44:35 UTC 2596525 http://rdf.ncbi.nlm.nih.gov/pubmed/2596525 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3416 3416 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4740 male "" "" "" "" 4740 Frontal face 2022-04-18 21:44:35 UTC 2596525 http://rdf.ncbi.nlm.nih.gov/pubmed/2596525 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3428 3428 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4753 unknown "" "" "" "" 4753 Frontal face 2022-04-18 21:44:35 UTC 7921121 http://rdf.ncbi.nlm.nih.gov/pubmed/7921121 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3428 3428 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4753 unknown "" "" "" "" 4753 Frontal face 2022-04-18 21:44:35 UTC 7921121 http://rdf.ncbi.nlm.nih.gov/pubmed/7921121 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3440 3440 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4768 male "" "" "" "" 4768 Frontal face 2022-04-18 21:44:35 UTC 10875719 http://rdf.ncbi.nlm.nih.gov/pubmed/10875719 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3440 3440 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4768 male "" "" "" "" 4768 Frontal face 2022-04-18 21:44:35 UTC 10875719 http://rdf.ncbi.nlm.nih.gov/pubmed/10875719 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3441 3441 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4769 male "" "" "" "" 4769 Frontal face 2022-04-18 21:44:35 UTC 10995508 http://rdf.ncbi.nlm.nih.gov/pubmed/10995508 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3441 3441 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4769 male "" "" "" "" 4769 Frontal face 2022-04-18 21:44:35 UTC 10995508 http://rdf.ncbi.nlm.nih.gov/pubmed/10995508 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3442 3442 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4770 male "" "" "" "" 4770 Frontal face 2022-04-18 21:44:35 UTC 10995508 http://rdf.ncbi.nlm.nih.gov/pubmed/10995508 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3442 3442 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4770 male "" "" "" "" 4770 Frontal face 2022-04-18 21:44:35 UTC 10995508 http://rdf.ncbi.nlm.nih.gov/pubmed/10995508 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3443 3443 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4771 female "" "" "" "" 4771 Frontal face 2022-04-18 21:44:35 UTC 10995508 http://rdf.ncbi.nlm.nih.gov/pubmed/10995508 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3443 3443 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4771 female "" "" "" "" 4771 Frontal face 2022-04-18 21:44:35 UTC 10995508 http://rdf.ncbi.nlm.nih.gov/pubmed/10995508 "" "" "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3444 3444 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4772 female "" "" "" "" 4772 Frontal face 2022-04-18 21:44:35 UTC 10995508 http://rdf.ncbi.nlm.nih.gov/pubmed/10995508 "" "" "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/3444 3444 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_4772 female "" "" "" "" 4772 Frontal face 2022-04-18 21:44:35 UTC 10995508 http://rdf.ncbi.nlm.nih.gov/pubmed/10995508 "" "" "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3666 3666 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5030 female FLNB http://identifiers.org/ncbigene/2317 African - North Egyptian 5030 Frontal face 2024-01-21 17:20:02 UTC 16450278 http://rdf.ncbi.nlm.nih.gov/pubmed/16450278 0 0 newborn NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3658 3658 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5022 male FLNB http://identifiers.org/ncbigene/2317 Asian - South/Indian Indian 5022 Frontal face 2022-02-25 22:44:57 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 10 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3658 3658 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5023 male FLNB http://identifiers.org/ncbigene/2317 Asian - South/Indian Indian 5023 Profile 2024-01-21 12:34:16 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 10 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3658 3658 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5024 male FLNB http://identifiers.org/ncbigene/2317 Asian - South/Indian Indian 5024 Frontal face 2024-01-21 12:34:22 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 10 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3659 3659 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5025 male FLNB http://identifiers.org/ncbigene/2317 American - African/Black, American - Latin/Hispanic, Caucasian mixed: Caucasian, African American, and Hispanic 5025 Frontal face 2022-02-25 22:45:00 UTC 30916490 http://rdf.ncbi.nlm.nih.gov/pubmed/30916490 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3661 3661 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5027 male FLNB http://identifiers.org/ncbigene/2317 Asian - East Chinese 5027 Frontal face 2024-01-21 13:58:59 UTC 21044106 http://rdf.ncbi.nlm.nih.gov/pubmed/21044106 8 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3661 3661 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5028 male FLNB http://identifiers.org/ncbigene/2317 Asian - East Chinese 5028 Profile 2024-01-21 13:59:05 UTC 21044106 http://rdf.ncbi.nlm.nih.gov/pubmed/21044106 8 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3669 3669 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5035 male FLNB http://identifiers.org/ncbigene/2317 Caucasian "" 5035 Frontal face 2024-01-21 17:36:04 UTC 5539773 http://rdf.ncbi.nlm.nih.gov/pubmed/5539773 0 0 10d NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5045 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5045 Frontal face 2022-02-25 22:45:24 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 0 0 Infancy NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5045 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5045 Frontal face 2022-02-25 22:45:24 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 0 0 Infancy NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5046 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5046 Frontal face 2022-02-25 22:45:27 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 0 0 Infancy NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5046 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5046 Frontal face 2022-02-25 22:45:27 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 0 0 Infancy NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5047 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5047 Frontal face 2022-02-25 22:45:28 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 0 0 Infancy NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5047 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5047 Frontal face 2022-02-25 22:45:28 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 0 0 Infancy NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/359 359 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_451 female DDX3X http://identifiers.org/ncbigene/1654 European "" 451 Frontal face 2023-08-30 12:07:11 UTC 26235985 http://rdf.ncbi.nlm.nih.gov/pubmed/26235985 4 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3660 3660 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5026 male FLNB http://identifiers.org/ncbigene/2317 Asian - South/Indian "" 5026 Frontal face 2024-01-21 13:44:53 UTC 32140028 http://rdf.ncbi.nlm.nih.gov/pubmed/32140028 15 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3662 3662 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5029 female FLNB http://identifiers.org/ncbigene/2317 Caucasian "" 5029 Frontal face 2022-02-25 22:45:05 UTC 6856406 http://rdf.ncbi.nlm.nih.gov/pubmed/6856406 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3667 3667 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5031 female FLNB http://identifiers.org/ncbigene/2317 Caucasian "" 5031 Frontal face 2022-02-25 22:45:09 UTC 14779259 http://rdf.ncbi.nlm.nih.gov/pubmed/14779259 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3667 3667 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5032 female FLNB http://identifiers.org/ncbigene/2317 Caucasian "" 5032 Profile 2021-05-07 12:36:25 UTC 14779259 http://rdf.ncbi.nlm.nih.gov/pubmed/14779259 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3668 3668 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5033 female FLNB http://identifiers.org/ncbigene/2317 Caucasian "" 5033 Frontal face 2022-02-25 22:45:12 UTC 14779259 http://rdf.ncbi.nlm.nih.gov/pubmed/14779259 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3668 3668 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5034 female FLNB http://identifiers.org/ncbigene/2317 Caucasian "" 5034 Profile 2021-05-07 12:37:05 UTC 14779259 http://rdf.ncbi.nlm.nih.gov/pubmed/14779259 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/3669 3669 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5036 male FLNB http://identifiers.org/ncbigene/2317 Caucasian "" 5036 Profile 2021-05-07 12:41:31 UTC 5539773 http://rdf.ncbi.nlm.nih.gov/pubmed/5539773 0 6 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5048 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5048 Frontal face 2022-02-25 22:45:31 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 2 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5048 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5048 Frontal face 2022-02-25 22:45:31 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 2 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5049 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5049 Frontal face 2022-02-25 22:45:32 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 8 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5049 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5049 Frontal face 2022-02-25 22:45:32 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 8 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5050 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5050 Frontal face 2022-02-25 22:45:34 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 12 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5050 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5050 Frontal face 2022-02-25 22:45:34 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 12 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5051 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5051 Frontal face 2022-02-25 22:45:36 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 17 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3674 3674 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5051 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5051 Frontal face 2022-02-25 22:45:36 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 17 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3675 3675 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5052 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5052 Frontal face 2022-02-25 22:45:38 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 7 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3675 3675 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5052 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5052 Frontal face 2022-02-25 22:45:38 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 7 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3676 3676 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5053 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5053 Frontal face 2022-02-25 22:45:39 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 15 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3676 3676 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5053 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5053 Frontal face 2022-02-25 22:45:39 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 15 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3677 3677 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5054 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5054 Frontal face 2022-02-25 22:45:42 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 12 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3677 3677 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5054 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5054 Frontal face 2022-02-25 22:45:42 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 12 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3673 3673 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5044 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 5044 Frontal face 2022-02-25 22:45:23 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 8 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3673 3673 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5044 unknown ZEB2 http://identifiers.org/ncbigene/9839 "" "" 5044 Frontal face 2022-02-25 22:45:23 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 8 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3613 3613 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4979 male "" "" Asian - South/Indian Indian 4979 Frontal face 2023-01-17 16:08:14 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3613 3613 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4979 male "" "" Asian - South/Indian Indian 4979 Frontal face 2023-01-17 16:08:14 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3627 3627 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4988 female "" "" Asian - South/Indian Indian 4988 Frontal face 2023-01-18 19:27:13 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3627 3627 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4988 female "" "" Asian - South/Indian Indian 4988 Frontal face 2023-01-18 19:27:13 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3634 3634 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4995 female "" "" African Cameroon 4995 Frontal face 2022-02-25 22:44:05 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3634 3634 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4995 female "" "" African Cameroon 4995 Frontal face 2022-02-25 22:44:05 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 13 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3635 3635 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4996 male "" "" African Cameroon 4996 Frontal face 2022-02-25 22:44:07 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 14 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3635 3635 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4996 male "" "" African Cameroon 4996 Frontal face 2022-02-25 22:44:07 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 14 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3642 3642 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5005 male "" "" American - Latin/Hispanic USA 5005 Frontal face 2024-01-20 17:40:38 UTC 20301427 http://rdf.ncbi.nlm.nih.gov/pubmed/20301427 12 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3642 3642 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5005 male "" "" American - Latin/Hispanic USA 5005 Frontal face 2024-01-20 17:40:38 UTC 20301427 http://rdf.ncbi.nlm.nih.gov/pubmed/20301427 12 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3648 3648 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5012 male "" "" American - Latin/Hispanic Brazilian 5012 Frontal face 2023-01-18 19:54:51 UTC 26090456 http://rdf.ncbi.nlm.nih.gov/pubmed/26090456 5 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3648 3648 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5012 male "" "" American - Latin/Hispanic Brazilian 5012 Frontal face 2023-01-18 19:54:51 UTC 26090456 http://rdf.ncbi.nlm.nih.gov/pubmed/26090456 5 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/36 36 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_44 male "" "" "" Chinese 44 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 7 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/36 36 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_44 male "" "" "" Chinese 44 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 7 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3615 3615 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4977 female "" "" "" Indian 4977 Frontal face 2023-01-17 16:04:18 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3615 3615 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4977 female "" "" "" Indian 4977 Frontal face 2023-01-17 16:04:18 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3628 3628 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4989 male "" "" "" Indian 4989 Frontal face 2023-01-18 19:30:02 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 9 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3628 3628 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4989 male "" "" "" Indian 4989 Frontal face 2023-01-18 19:30:02 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 9 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3638 3638 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5001 female "" "" "" American 5001 Frontal face 2022-02-25 22:44:16 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 1 7 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3638 3638 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5001 female "" "" "" American 5001 Frontal face 2022-02-25 22:44:16 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 1 7 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3611 3611 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4972 unknown "" "" Asian - South/Indian "" 4972 Frontal face 2022-02-25 22:43:21 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3611 3611 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4972 unknown "" "" Asian - South/Indian "" 4972 Frontal face 2022-02-25 22:43:21 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3619 3619 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4973 unknown "" "" Asian - South/Indian "" 4973 Frontal face 2022-02-25 22:43:23 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3619 3619 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4973 unknown "" "" Asian - South/Indian "" 4973 Frontal face 2022-02-25 22:43:23 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3618 3618 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4974 unknown "" "" Asian - South/Indian "" 4974 Frontal face 2022-02-25 22:43:25 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3618 3618 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4974 unknown "" "" Asian - South/Indian "" 4974 Frontal face 2022-02-25 22:43:25 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3617 3617 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4975 female "" "" Asian - South/Indian "" 4975 Frontal face 2022-02-25 22:43:26 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3617 3617 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4975 female "" "" Asian - South/Indian "" 4975 Frontal face 2022-02-25 22:43:26 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3616 3616 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4976 unknown "" "" Asian - South/Indian "" 4976 Frontal face 2022-02-25 22:43:29 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3616 3616 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4976 unknown "" "" Asian - South/Indian "" 4976 Frontal face 2022-02-25 22:43:29 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3614 3614 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4978 unknown "" "" Asian - South/Indian "" 4978 Frontal face 2022-02-25 22:43:33 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3614 3614 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4978 unknown "" "" Asian - South/Indian "" 4978 Frontal face 2022-02-25 22:43:33 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3612 3612 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4980 female "" "" Asian - South/Indian "" 4980 Frontal face 2022-02-25 22:43:37 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3612 3612 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4980 female "" "" Asian - South/Indian "" 4980 Frontal face 2022-02-25 22:43:37 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3620 3620 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4981 unknown "" "" Asian - South/Indian "" 4981 Frontal face 2022-02-25 22:43:38 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3620 3620 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4981 unknown "" "" Asian - South/Indian "" 4981 Frontal face 2022-02-25 22:43:38 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3625 3625 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4982 unknown "" "" Asian - South/Indian "" 4982 Frontal face 2022-02-25 22:43:41 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3625 3625 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4982 unknown "" "" Asian - South/Indian "" 4982 Frontal face 2022-02-25 22:43:41 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3624 3624 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4983 unknown "" "" Asian - South/Indian "" 4983 Frontal face 2022-02-25 22:43:42 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3624 3624 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4983 unknown "" "" Asian - South/Indian "" 4983 Frontal face 2022-02-25 22:43:42 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3623 3623 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4984 unknown "" "" Asian - South/Indian "" 4984 Frontal face 2022-02-25 22:43:45 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3623 3623 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4984 unknown "" "" Asian - South/Indian "" 4984 Frontal face 2022-02-25 22:43:45 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3622 3622 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4985 male "" "" Asian - South/Indian "" 4985 Frontal face 2022-02-25 22:43:46 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3622 3622 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4985 male "" "" Asian - South/Indian "" 4985 Frontal face 2022-02-25 22:43:46 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3621 3621 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4986 male "" "" Asian - South/Indian "" 4986 Frontal face 2022-02-25 22:43:49 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3621 3621 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4986 male "" "" Asian - South/Indian "" 4986 Frontal face 2022-02-25 22:43:49 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3626 3626 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4987 unknown "" "" Asian - South/Indian "" 4987 Frontal face 2022-02-25 22:43:49 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3626 3626 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4987 unknown "" "" Asian - South/Indian "" 4987 Frontal face 2022-02-25 22:43:49 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3629 3629 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4990 unknown "" "" Asian - South/Indian "" 4990 Frontal face 2022-02-25 22:43:56 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3629 3629 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4990 unknown "" "" Asian - South/Indian "" 4990 Frontal face 2022-02-25 22:43:56 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3630 3630 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4991 female "" "" Asian - South/Indian "" 4991 Frontal face 2022-02-25 22:43:57 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3630 3630 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4991 female "" "" Asian - South/Indian "" 4991 Frontal face 2022-02-25 22:43:57 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3631 3631 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4992 male "" "" Asian - South/Indian "" 4992 Frontal face 2022-02-25 22:44:00 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3631 3631 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4992 male "" "" Asian - South/Indian "" 4992 Frontal face 2022-02-25 22:44:00 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3632 3632 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4993 male "" "" Asian - South/Indian "" 4993 Frontal face 2022-02-25 22:44:01 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3632 3632 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4993 male "" "" Asian - South/Indian "" 4993 Frontal face 2022-02-25 22:44:01 UTC 22628065 http://rdf.ncbi.nlm.nih.gov/pubmed/22628065 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3633 3633 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4994 female "" "" African "" 4994 Frontal face 2022-02-25 22:44:04 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 1 7 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3633 3633 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4994 female "" "" African "" 4994 Frontal face 2022-02-25 22:44:04 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 1 7 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3636 3636 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4997 female "" "" Caucasian "" 4997 Frontal face 2022-02-25 22:44:08 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 30 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3636 3636 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4997 female "" "" Caucasian "" 4997 Frontal face 2022-02-25 22:44:08 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 30 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3636 3636 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4998 female "" "" Caucasian "" 4998 Frontal face 2022-02-25 22:44:11 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 46 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3636 3636 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4998 female "" "" Caucasian "" 4998 Frontal face 2022-02-25 22:44:11 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 46 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3637 3637 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4999 female "" "" Caucasian "" 4999 Frontal face 2022-02-25 22:44:12 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 1 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3637 3637 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4999 female "" "" Caucasian "" 4999 Frontal face 2022-02-25 22:44:12 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 1 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3637 3637 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5000 female "" "" Caucasian "" 5000 Frontal face 2022-02-25 22:44:15 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 17 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3637 3637 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5000 female "" "" Caucasian "" 5000 Frontal face 2022-02-25 22:44:15 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 17 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3639 3639 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5002 male "" "" Caucasian "" 5002 Frontal face 2022-02-25 22:44:19 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3639 3639 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5002 male "" "" Caucasian "" 5002 Frontal face 2022-02-25 22:44:19 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3640 3640 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5003 female "" "" American - Latin/Hispanic "" 5003 Frontal face 2022-02-25 22:44:20 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3640 3640 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5003 female "" "" American - Latin/Hispanic "" 5003 Frontal face 2022-02-25 22:44:20 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3641 3641 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5004 female "" "" American - African/Black "" 5004 Frontal face 2023-01-17 15:33:54 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 6 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3641 3641 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5004 female "" "" American - African/Black "" 5004 Frontal face 2023-01-17 15:33:54 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 6 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3643 3643 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5006 male "" "" Caucasian "" 5006 Frontal face 2022-02-25 22:44:26 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 13 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3643 3643 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5006 male "" "" Caucasian "" 5006 Frontal face 2022-02-25 22:44:26 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3644 3644 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5007 male "" "" American - African/Black "" 5007 Frontal face 2022-02-25 22:44:28 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3644 3644 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5007 male "" "" American - African/Black "" 5007 Frontal face 2022-02-25 22:44:28 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3645 3645 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5008 male "" "" Caucasian "" 5008 Frontal face 2022-02-25 22:44:30 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 30 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3645 3645 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5008 male "" "" Caucasian "" 5008 Frontal face 2022-02-25 22:44:30 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 30 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3646 3646 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5009 male "" "" Caucasian "" 5009 Frontal face 2022-02-25 22:44:31 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 3 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3646 3646 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5009 male "" "" Caucasian "" 5009 Frontal face 2022-02-25 22:44:31 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 3 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3646 3646 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5010 male "" "" Caucasian "" 5010 Frontal face 2022-02-25 22:44:34 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 21 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3646 3646 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5010 male "" "" Caucasian "" 5010 Frontal face 2022-02-25 22:44:34 UTC 25565928 http://rdf.ncbi.nlm.nih.gov/pubmed/25565928 21 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3647 3647 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5011 female "" "" American - Latin/Hispanic "" 5011 Frontal face 2022-02-25 22:44:35 UTC 26090456 http://rdf.ncbi.nlm.nih.gov/pubmed/26090456 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/3647 3647 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5011 female "" "" American - Latin/Hispanic "" 5011 Frontal face 2022-02-25 22:44:35 UTC 26090456 http://rdf.ncbi.nlm.nih.gov/pubmed/26090456 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3739 3739 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_5147 female RECQL4 http://identifiers.org/ncbigene/9401 European Italian 5147 Frontal face 2022-02-25 22:48:02 UTC 29642415 http://rdf.ncbi.nlm.nih.gov/pubmed/29642415 32 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3740 3740 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_5148 female RECQL4 http://identifiers.org/ncbigene/9401 European Belgian 5148 Frontal face 2022-02-25 22:48:03 UTC 29642415 http://rdf.ncbi.nlm.nih.gov/pubmed/29642415 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3746 3746 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_5154 male RECQL4 http://identifiers.org/ncbigene/9401 Asian - South/Indian Pakistan 5154 Frontal face 2022-02-25 22:48:14 UTC 29224249 http://rdf.ncbi.nlm.nih.gov/pubmed/29224249 0 11 "" NANDO:1200991 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3777 3777 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5189 male TAZ http://identifiers.org/ncbigene/6901 Unknown Not reported 5189 Frontal face 2022-02-25 22:49:21 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 3 0 "" NANDO:2200751 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3777 3777 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5189 male TAZ http://identifiers.org/ncbigene/6901 Unknown Not reported 5189 Frontal face 2022-02-25 22:49:21 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 3 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3841 3841 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5307 male ASXL3 http://identifiers.org/ncbigene/80816 Asian - East Korean 5307 Frontal face 2024-04-19 11:18:37 UTC 28955728 http://rdf.ncbi.nlm.nih.gov/pubmed/28955728 16 0 "" NANDO:2200412 MONDO:0018919 OMIM:174800 https://db.gestaltmatcher.org/patients/3935 3935 MCCUNE-ALBRIGHT SYNDROME https://db.gestaltmatcher.org/patients/image_5446 male GNAS http://identifiers.org/ncbigene/2778 European German 5446 Frontal face 2022-02-25 22:55:16 UTC 10190480 http://rdf.ncbi.nlm.nih.gov/pubmed/10190480 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4010 4010 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_5580 female NBN http://identifiers.org/ncbigene/4683 European - Eastern Czech 5580 Frontal face 2022-02-25 22:58:14 UTC 15033202 http://rdf.ncbi.nlm.nih.gov/pubmed/15033202 0 7 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4010 4010 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_5580 female NBN http://identifiers.org/ncbigene/4683 European - Eastern Czech 5580 Frontal face 2022-02-25 22:58:14 UTC 15033202 http://rdf.ncbi.nlm.nih.gov/pubmed/15033202 0 7 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4011 4011 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_5581 male NBN http://identifiers.org/ncbigene/4683 European - Eastern Czech 5581 Frontal face 2022-02-25 22:58:17 UTC 15033202 http://rdf.ncbi.nlm.nih.gov/pubmed/15033202 0 8 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4011 4011 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_5581 male NBN http://identifiers.org/ncbigene/4683 European - Eastern Czech 5581 Frontal face 2022-02-25 22:58:17 UTC 15033202 http://rdf.ncbi.nlm.nih.gov/pubmed/15033202 0 8 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4012 4012 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_5582 male NBN http://identifiers.org/ncbigene/4683 European - Eastern Czech 5582 Frontal face 2022-02-25 22:58:18 UTC 15033202 http://rdf.ncbi.nlm.nih.gov/pubmed/15033202 0 7 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4012 4012 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_5582 male NBN http://identifiers.org/ncbigene/4683 European - Eastern Czech 5582 Frontal face 2022-02-25 22:58:18 UTC 15033202 http://rdf.ncbi.nlm.nih.gov/pubmed/15033202 0 7 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4131 4131 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5791 male FLNB http://identifiers.org/ncbigene/2317 Asian - South/Indian Indian 5791 Frontal face 2022-02-25 23:02:39 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 3 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4134 4134 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5795 male FLNB http://identifiers.org/ncbigene/2317 European German 5795 Frontal face 2022-02-25 23:02:46 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 0 6 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4134 4134 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5796 male FLNB http://identifiers.org/ncbigene/2317 European German 5796 Profile 2021-05-30 20:17:09 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 4 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4134 4134 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5798 male FLNB http://identifiers.org/ncbigene/2317 European German 5798 Frontal face 2022-02-25 23:02:46 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 42 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4137 4137 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5799 female FLNB http://identifiers.org/ncbigene/2317 European German 5799 Frontal face 2022-02-25 23:02:49 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 39 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4137 4137 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5800 female FLNB http://identifiers.org/ncbigene/2317 European German 5800 Profile 2021-05-30 20:20:41 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 39 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4146 4146 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5815 male FLNB http://identifiers.org/ncbigene/2317 European German 5815 Frontal face 2022-02-25 23:03:09 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 1 6 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4148 4148 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5821 female GZF1 http://identifiers.org/ncbigene/64412 Arab Saudi arabian 5821 Frontal face 2022-02-25 23:03:20 UTC 28475863 http://rdf.ncbi.nlm.nih.gov/pubmed/28475863 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4149 4149 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5822 male GZF1 http://identifiers.org/ncbigene/64412 Arab Saudi arabian 5822 Frontal face 2022-02-25 23:03:23 UTC 28475863 http://rdf.ncbi.nlm.nih.gov/pubmed/28475863 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4150 4150 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5823 male GZF1 http://identifiers.org/ncbigene/64412 Arab Saudi Arabian 5823 Frontal face 2022-02-25 23:03:24 UTC 28475863 http://rdf.ncbi.nlm.nih.gov/pubmed/28475863 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4151 4151 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5824 male GZF1 http://identifiers.org/ncbigene/64412 Arab Saudi arabian 5824 Frontal face 2022-02-25 23:03:27 UTC 28475863 http://rdf.ncbi.nlm.nih.gov/pubmed/28475863 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/4160 4160 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_5839 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 5839 Frontal face 2022-02-25 23:03:49 UTC 22355256 http://rdf.ncbi.nlm.nih.gov/pubmed/22355256 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/4160 4160 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_5839 female FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 5839 Frontal face 2022-02-25 23:03:49 UTC 22355256 http://rdf.ncbi.nlm.nih.gov/pubmed/22355256 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/4161 4161 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_5840 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 5840 Frontal face 2022-02-25 23:03:50 UTC 22355256 http://rdf.ncbi.nlm.nih.gov/pubmed/22355256 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/4161 4161 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_5840 male FGFR2 http://identifiers.org/ncbigene/2263 Asian - East Chinese 5840 Frontal face 2022-02-25 23:03:50 UTC 22355256 http://rdf.ncbi.nlm.nih.gov/pubmed/22355256 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3786 3786 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5204 female ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5204 Frontal face 2024-04-07 15:50:16 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 22 0 assumed by table NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3787 3787 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5205 female ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5205 Frontal face 2024-04-07 15:53:21 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 6 0 assumed by table NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11858 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 11858 Profile 2022-09-17 09:47:04 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 5 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11858 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 11858 Profile 2022-09-17 09:47:04 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 5 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11858 female POGZ http://identifiers.org/ncbigene/23126 Caucasian "" 11858 Profile 2022-09-17 09:47:04 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 5 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11858 female POGZ http://identifiers.org/ncbigene/23126 Caucasian "" 11858 Profile 2022-09-17 09:47:04 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 5 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11859 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 11859 Frontal face 2022-09-17 09:46:33 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 15 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11859 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 11859 Frontal face 2022-09-17 09:46:33 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 15 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11859 female POGZ http://identifiers.org/ncbigene/23126 Caucasian "" 11859 Frontal face 2022-09-17 09:46:33 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 15 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11859 female POGZ http://identifiers.org/ncbigene/23126 Caucasian "" 11859 Frontal face 2022-09-17 09:46:33 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 15 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11860 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 11860 Profile 2024-01-06 11:14:22 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 15 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11860 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 11860 Profile 2024-01-06 11:14:22 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 15 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11860 female POGZ http://identifiers.org/ncbigene/23126 Caucasian "" 11860 Profile 2024-01-06 11:14:22 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 15 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11860 female POGZ http://identifiers.org/ncbigene/23126 Caucasian "" 11860 Profile 2024-01-06 11:14:22 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 15 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_483 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 483 Frontal face 2022-09-17 09:46:58 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 5 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_483 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 483 Frontal face 2022-09-17 09:46:58 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 5 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_483 female POGZ http://identifiers.org/ncbigene/23126 Caucasian "" 483 Frontal face 2022-09-17 09:46:58 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 5 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/384 384 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_483 female POGZ http://identifiers.org/ncbigene/23126 Caucasian "" 483 Frontal face 2022-09-17 09:46:58 UTC 26739615 http://rdf.ncbi.nlm.nih.gov/pubmed/26739615 5 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3678 3678 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5055 unknown ZEB2 http://identifiers.org/ncbigene/9839 European "" 5055 Frontal face 2022-02-25 22:45:43 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 6 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3678 3678 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5055 unknown ZEB2 http://identifiers.org/ncbigene/9839 European "" 5055 Frontal face 2022-02-25 22:45:43 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 6 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3679 3679 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5056 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5056 Frontal face 2022-02-25 22:45:46 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 14 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3679 3679 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5056 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5056 Frontal face 2022-02-25 22:45:46 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 14 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3680 3680 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5057 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5057 Frontal face 2022-02-25 22:45:47 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 12 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3680 3680 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5057 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5057 Frontal face 2022-02-25 22:45:47 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 12 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3681 3681 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5058 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5058 Frontal face 2022-02-25 22:45:50 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 8 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3681 3681 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5058 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5058 Frontal face 2022-02-25 22:45:50 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 8 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3682 3682 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5059 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5059 Frontal face 2022-02-25 22:45:50 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 14 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3682 3682 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5059 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5059 Frontal face 2022-02-25 22:45:50 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 14 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3683 3683 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5060 unknown ZEB2 http://identifiers.org/ncbigene/9839 European "" 5060 Frontal face 2022-02-25 22:45:53 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 14 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3683 3683 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5060 unknown ZEB2 http://identifiers.org/ncbigene/9839 European "" 5060 Frontal face 2022-02-25 22:45:53 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 14 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3684 3684 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5061 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5061 Frontal face 2022-02-25 22:45:54 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 11 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3684 3684 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5061 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5061 Frontal face 2022-02-25 22:45:54 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 11 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3684 3684 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5062 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5062 Frontal face 2022-02-25 22:45:57 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 12 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3684 3684 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5062 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5062 Frontal face 2022-02-25 22:45:57 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 12 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3685 3685 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5063 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5063 Frontal face 2022-02-25 22:45:58 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 28 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3685 3685 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5063 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5063 Frontal face 2022-02-25 22:45:58 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 28 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3686 3686 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5064 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5064 Frontal face 2022-02-25 22:46:01 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 3 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3686 3686 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5064 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5064 Frontal face 2022-02-25 22:46:01 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 3 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3687 3687 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5065 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5065 Frontal face 2022-02-25 22:46:02 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 14 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3687 3687 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5065 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5065 Frontal face 2022-02-25 22:46:02 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 14 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3689 3689 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5067 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5067 Frontal face 2022-02-25 22:46:06 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 16 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3689 3689 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5067 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5067 Frontal face 2022-02-25 22:46:06 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 16 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3691 3691 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5069 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5069 Frontal face 2022-02-25 22:46:10 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 3 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3691 3691 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5069 female ZEB2 http://identifiers.org/ncbigene/9839 European "" 5069 Frontal face 2022-02-25 22:46:10 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 3 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3692 3692 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5070 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5070 Frontal face 2022-02-25 22:46:12 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 10 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3692 3692 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5070 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5070 Frontal face 2022-02-25 22:46:12 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 10 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3693 3693 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5071 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5071 Frontal face 2022-02-25 22:46:13 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 3 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3693 3693 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5071 male ZEB2 http://identifiers.org/ncbigene/9839 European "" 5071 Frontal face 2022-02-25 22:46:13 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 3 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3738 3738 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_5146 male RECQL4 http://identifiers.org/ncbigene/9401 European "" 5146 Frontal face 2022-02-25 22:47:59 UTC 30821407 http://rdf.ncbi.nlm.nih.gov/pubmed/30821407 52 0 "" NANDO:1200991 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3778 3778 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5190 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5190 Frontal face 2022-02-25 22:49:22 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 3 0 "" NANDO:2200751 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3778 3778 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5190 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5190 Frontal face 2022-02-25 22:49:22 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 3 0 "" NANDO:1200991 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3779 3779 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5191 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5191 Frontal face 2022-02-25 22:49:25 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 6 0 "" NANDO:2200751 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3779 3779 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5191 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5191 Frontal face 2022-02-25 22:49:25 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 6 0 "" NANDO:1200991 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3780 3780 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5192 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5192 Frontal face 2022-02-25 22:49:26 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 7 0 "" NANDO:2200751 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3780 3780 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5192 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5192 Frontal face 2022-02-25 22:49:26 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 7 0 "" NANDO:1200991 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3782 3782 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5194 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5194 Frontal face 2022-02-25 22:49:30 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 12 0 "" NANDO:2200751 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3782 3782 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5194 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5194 Frontal face 2022-02-25 22:49:30 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 12 0 "" NANDO:1200991 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3783 3783 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5195 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5195 Frontal face 2022-02-25 22:49:32 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 14 0 "" NANDO:2200751 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3783 3783 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5195 male TAZ http://identifiers.org/ncbigene/6901 Unknown "" 5195 Frontal face 2022-02-25 22:49:32 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 14 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3785 3785 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5203 male ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5203 Frontal face 2024-04-07 15:48:45 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 19 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3788 3788 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5206 female ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5206 Frontal face 2024-04-07 16:05:48 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 6 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3789 3789 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5207 male ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5207 Frontal face 2024-04-10 14:55:17 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 9 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3790 3790 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5208 male ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5208 Frontal face 2024-04-10 15:00:35 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 6 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3791 3791 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5209 male ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5209 Frontal face 2024-04-10 15:06:59 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 10 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3792 3792 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5210 female ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5210 Frontal face 2024-04-10 15:15:44 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 20 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3793 3793 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5211 female ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5211 Frontal face 2024-04-10 15:16:03 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 4 3 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3794 3794 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5212 male ASXL3 http://identifiers.org/ncbigene/80816 Caucasian, European "" 5212 Frontal face 2024-04-10 15:42:45 UTC 28100473 http://rdf.ncbi.nlm.nih.gov/pubmed/28100473 8 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3836 3836 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5301 unknown ASXL3 http://identifiers.org/ncbigene/80816 Unknown "" 5301 Frontal face 2022-02-25 22:51:39 UTC 23383720 http://rdf.ncbi.nlm.nih.gov/pubmed/23383720 0 1 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3837 3837 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5302 female ASXL3 http://identifiers.org/ncbigene/80816 Unknown "" 5302 Frontal face 2022-02-25 22:51:40 UTC 23383720 http://rdf.ncbi.nlm.nih.gov/pubmed/23383720 5 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3838 3838 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5303 female ASXL3 http://identifiers.org/ncbigene/80816 Unknown "" 5303 Frontal face 2022-02-25 22:51:43 UTC 23383720 http://rdf.ncbi.nlm.nih.gov/pubmed/23383720 3 5 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3838 3838 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5304 female ASXL3 http://identifiers.org/ncbigene/80816 Unknown "" 5304 Frontal face 2022-02-25 22:51:44 UTC 23383720 http://rdf.ncbi.nlm.nih.gov/pubmed/23383720 3 5 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3839 3839 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5305 female ASXL3 http://identifiers.org/ncbigene/80816 Unknown "" 5305 Frontal face 2022-02-25 22:51:47 UTC 26647312 http://rdf.ncbi.nlm.nih.gov/pubmed/26647312 3 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/3840 3840 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_5306 male ASXL3 http://identifiers.org/ncbigene/80816 Unknown "" 5306 Frontal face 2022-02-25 22:51:48 UTC 26647312 http://rdf.ncbi.nlm.nih.gov/pubmed/26647312 0 0 "" NANDO:2200412 MONDO:0018919 OMIM:174800 https://db.gestaltmatcher.org/patients/3936 3936 MCCUNE-ALBRIGHT SYNDROME https://db.gestaltmatcher.org/patients/image_5447 male GNAS http://identifiers.org/ncbigene/2778 Unknown "" 5447 Frontal face 2022-02-25 22:55:17 UTC 3377009 http://rdf.ncbi.nlm.nih.gov/pubmed/3377009 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3985 3985 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_5533 male RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 5533 Frontal face 2022-02-25 22:57:18 UTC 24635570 http://rdf.ncbi.nlm.nih.gov/pubmed/24635570 6 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3986 3986 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_5534 female RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 5534 Frontal face 2022-02-25 22:57:20 UTC 24635570 http://rdf.ncbi.nlm.nih.gov/pubmed/24635570 6 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3987 3987 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_5535 female RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 5535 Frontal face 2022-02-25 22:57:21 UTC 24518840 http://rdf.ncbi.nlm.nih.gov/pubmed/24518840 4 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/3987 3987 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_5536 female RECQL4 http://identifiers.org/ncbigene/9401 Caucasian "" 5536 Frontal face 2022-02-25 22:57:24 UTC 24518840 http://rdf.ncbi.nlm.nih.gov/pubmed/24518840 9 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/4009 4009 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_5574 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 5574 Frontal face 2022-02-25 22:58:11 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 4 0 "" NANDO:1201035 MONDO:0010305 OMIM:300352 https://db.gestaltmatcher.org/patients/4008 4008 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 https://db.gestaltmatcher.org/patients/image_5575 male SLC6A8 http://identifiers.org/ncbigene/6535 Caucasian "" 5575 Frontal face 2022-02-25 22:58:14 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 7 5 "" NANDO:2201301 MONDO:0010305 OMIM:300352 https://db.gestaltmatcher.org/patients/4008 4008 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 https://db.gestaltmatcher.org/patients/image_5575 male SLC6A8 http://identifiers.org/ncbigene/6535 Caucasian "" 5575 Frontal face 2022-02-25 22:58:14 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 7 5 "" NANDO:1201035 MONDO:0010305 OMIM:300352 https://db.gestaltmatcher.org/patients/4008 4008 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 https://db.gestaltmatcher.org/patients/image_5576 male SLC6A8 http://identifiers.org/ncbigene/6535 Caucasian "" 5576 Profile 2021-05-26 14:48:12 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 7 5 "" NANDO:2201301 MONDO:0010305 OMIM:300352 https://db.gestaltmatcher.org/patients/4008 4008 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 https://db.gestaltmatcher.org/patients/image_5576 male SLC6A8 http://identifiers.org/ncbigene/6535 Caucasian "" 5576 Profile 2021-05-26 14:48:12 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 7 5 "" NANDO:1201035 MONDO:0010305 OMIM:300352 https://db.gestaltmatcher.org/patients/4008 4008 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 https://db.gestaltmatcher.org/patients/image_5577 male SLC6A8 http://identifiers.org/ncbigene/6535 Caucasian "" 5577 Profile 2021-05-26 14:48:33 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 7 5 "" NANDO:2201301 MONDO:0010305 OMIM:300352 https://db.gestaltmatcher.org/patients/4008 4008 CEREBRAL CREATINE DEFICIENCY SYNDROME 1 https://db.gestaltmatcher.org/patients/image_5577 male SLC6A8 http://identifiers.org/ncbigene/6535 Caucasian "" 5577 Profile 2021-05-26 14:48:33 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 7 5 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/4009 4009 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_5578 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 5578 Profile 2021-05-26 14:49:12 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 4 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/4009 4009 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_5579 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 5579 Profile 2021-05-26 14:49:28 UTC 32337850 http://rdf.ncbi.nlm.nih.gov/pubmed/32337850 4 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4050 4050 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5641 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5641 Frontal face 2022-02-25 22:59:40 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 6 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4050 4050 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5641 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5641 Frontal face 2022-02-25 22:59:40 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 6 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4050 4050 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5642 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5642 Profile 2021-05-27 10:31:15 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 6 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4050 4050 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5642 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5642 Profile 2021-05-27 10:31:15 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 6 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4050 4050 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5643 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5643 Frontal face 2022-02-25 22:59:41 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 6 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4050 4050 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5643 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5643 Frontal face 2022-02-25 22:59:41 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 6 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4050 4050 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5644 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5644 Frontal face 2022-02-25 22:59:43 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 6 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4050 4050 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5644 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5644 Frontal face 2022-02-25 22:59:43 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 6 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4051 4051 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5645 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5645 Frontal face 2022-02-25 22:59:44 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 37 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4051 4051 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5645 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5645 Frontal face 2022-02-25 22:59:44 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 37 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4051 4051 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5646 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5646 Profile 2021-05-27 10:32:38 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 37 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4051 4051 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5646 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5646 Profile 2021-05-27 10:32:38 UTC 27683195 http://rdf.ncbi.nlm.nih.gov/pubmed/27683195 37 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4052 4052 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5647 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5647 Frontal face 2022-02-25 22:59:47 UTC 27311559 http://rdf.ncbi.nlm.nih.gov/pubmed/27311559 6 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4052 4052 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5647 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5647 Frontal face 2022-02-25 22:59:47 UTC 27311559 http://rdf.ncbi.nlm.nih.gov/pubmed/27311559 6 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4052 4052 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5648 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5648 Frontal face 2022-02-25 22:59:48 UTC 27311559 http://rdf.ncbi.nlm.nih.gov/pubmed/27311559 13 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4052 4052 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5648 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5648 Frontal face 2022-02-25 22:59:48 UTC 27311559 http://rdf.ncbi.nlm.nih.gov/pubmed/27311559 13 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4052 4052 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5649 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5649 Profile 2021-05-27 10:40:05 UTC 27311559 http://rdf.ncbi.nlm.nih.gov/pubmed/27311559 13 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4052 4052 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5649 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5649 Profile 2021-05-27 10:40:05 UTC 27311559 http://rdf.ncbi.nlm.nih.gov/pubmed/27311559 13 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4052 4052 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5650 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5650 Others 2021-05-27 10:40:21 UTC 27311559 http://rdf.ncbi.nlm.nih.gov/pubmed/27311559 23 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4052 4052 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5650 female RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5650 Others 2021-05-27 10:40:21 UTC 27311559 http://rdf.ncbi.nlm.nih.gov/pubmed/27311559 23 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4053 4053 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5651 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5651 Frontal face 2022-02-25 22:59:51 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4053 4053 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5651 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5651 Frontal face 2022-02-25 22:59:51 UTC 24715852 http://rdf.ncbi.nlm.nih.gov/pubmed/24715852 0 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/4056 4056 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_5659 female CDC42 http://identifiers.org/ncbigene/998 African "" 5659 Frontal face 2022-02-25 23:00:00 UTC 33936654 http://rdf.ncbi.nlm.nih.gov/pubmed/33936654 0 0 "" NANDO:2200985 MONDO:0014757 OMIM:616737 https://db.gestaltmatcher.org/patients/4056 4056 TAKENOUCHI-KOSAKI SYNDROME https://db.gestaltmatcher.org/patients/image_5660 female CDC42 http://identifiers.org/ncbigene/998 African "" 5660 Profile 2021-05-27 11:10:00 UTC 33936654 http://rdf.ncbi.nlm.nih.gov/pubmed/33936654 0 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4132 4132 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5792 female FLNB http://identifiers.org/ncbigene/2317 Asian - South/Indian "" 5792 Frontal face 2022-02-25 23:02:42 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 9 0 "" NANDO:2201019 MONDO:0007875 OMIM:150250 https://db.gestaltmatcher.org/patients/4133 4133 LARSEN SYNDROME https://db.gestaltmatcher.org/patients/image_5793 male FLNB http://identifiers.org/ncbigene/2317 Asian - South/Indian "" 5793 Frontal face 2022-02-25 23:02:43 UTC 27048506 http://rdf.ncbi.nlm.nih.gov/pubmed/27048506 6 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4145 4145 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_5816 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 5816 Frontal face 2022-02-25 23:03:12 UTC 22934316 http://rdf.ncbi.nlm.nih.gov/pubmed/22934316 0 1 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4145 4145 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_5817 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 5817 Frontal face 2022-02-25 23:03:13 UTC 22934316 http://rdf.ncbi.nlm.nih.gov/pubmed/22934316 7 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4145 4145 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_5818 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 5818 Frontal face 2022-02-25 23:03:16 UTC 22934316 http://rdf.ncbi.nlm.nih.gov/pubmed/22934316 13 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4147 4147 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_5819 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 5819 Frontal face 2022-02-25 23:03:17 UTC 22934316 http://rdf.ncbi.nlm.nih.gov/pubmed/22934316 10 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4147 4147 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_5820 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 5820 Frontal face 2022-02-25 23:03:19 UTC 22934316 http://rdf.ncbi.nlm.nih.gov/pubmed/22934316 24 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3688 3688 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5066 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 5066 Frontal face 2022-02-25 22:46:05 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 9 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/3688 3688 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_5066 female ZEB2 http://identifiers.org/ncbigene/9839 "" "" 5066 Frontal face 2022-02-25 22:46:05 UTC 29300384 http://rdf.ncbi.nlm.nih.gov/pubmed/29300384 9 0 "" NANDO:1200991 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3781 3781 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5193 male TAZ http://identifiers.org/ncbigene/6901 "" "" 5193 Frontal face 2022-02-25 22:49:29 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 6 0 "" NANDO:2200751 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3781 3781 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5193 male TAZ http://identifiers.org/ncbigene/6901 "" "" 5193 Frontal face 2022-02-25 22:49:29 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 6 0 "" NANDO:1200991 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3784 3784 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5196 male TAZ http://identifiers.org/ncbigene/6901 "" "" 5196 Frontal face 2022-02-25 22:49:34 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 18 0 "" NANDO:2200751 MONDO:0010543 OMIM:302060 https://db.gestaltmatcher.org/patients/3784 3784 BARTH SYNDROME https://db.gestaltmatcher.org/patients/image_5196 male TAZ http://identifiers.org/ncbigene/6901 "" "" 5196 Frontal face 2022-02-25 22:49:34 UTC 19648820 http://rdf.ncbi.nlm.nih.gov/pubmed/19648820 18 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4047 4047 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5635 male "" "" Asian - West/Middle Eastern Turkish 5635 Frontal face 2022-02-25 22:59:32 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 7 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4047 4047 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5635 male "" "" Asian - West/Middle Eastern Turkish 5635 Frontal face 2022-02-25 22:59:32 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 7 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4047 4047 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5636 male "" "" Asian - West/Middle Eastern Turkish 5636 Frontal face 2022-02-25 22:59:33 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 7 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4047 4047 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5636 male "" "" Asian - West/Middle Eastern Turkish 5636 Frontal face 2022-02-25 22:59:33 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/37 37 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_45 female "" "" "" Chinese 45 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 2 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/37 37 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_45 female "" "" "" Chinese 45 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 2 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/38 38 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_46 male "" "" "" Chinese 46 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/38 38 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_46 male "" "" "" Chinese 46 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/39 39 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_47 female "" "" "" Chinese 47 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/39 39 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_47 female "" "" "" Chinese 47 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/39 39 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_48 female "" "" "" Chinese 48 Profile 2021-05-08 17:29:23 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/39 39 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_48 female "" "" "" Chinese 48 Profile 2021-05-08 17:29:23 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 5 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/40 40 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_49 male "" "" "" Chinese 49 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 10 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/40 40 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_49 male "" "" "" Chinese 49 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 10 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/41 41 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_50 male "" "" "" Indian 50 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 5 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/41 41 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_50 male "" "" "" Indian 50 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/42 42 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_51 male "" "" "" Indian 51 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/42 42 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_51 male "" "" "" Indian 51 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/4 4 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_3 female "" "" "" Caucasian 3 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 "" "" (young adult) NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/4 4 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_3 female "" "" "" Caucasian 3 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 "" "" (young adult) NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3754 3754 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_5162 unknown "" "" Caucasian "" 5162 Frontal face 2022-02-25 22:48:30 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 0 1 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3755 3755 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_5163 unknown "" "" Caucasian "" 5163 Frontal face 2022-02-25 22:48:32 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 0 5 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3756 3756 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_5164 unknown "" "" Caucasian "" 5164 Frontal face 2022-02-25 22:48:33 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 1 3 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3757 3757 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_5165 unknown "" "" Caucasian "" 5165 Frontal face 2022-02-25 22:48:36 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 3 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4048 4048 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5637 female "" "" Unknown "" 5637 Frontal face 2022-02-25 22:59:36 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 11 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4048 4048 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5637 female "" "" Unknown "" 5637 Frontal face 2022-02-25 22:59:36 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 11 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4048 4048 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5638 female "" "" Unknown "" 5638 Profile 2021-05-27 10:26:03 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 11 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4048 4048 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5638 female "" "" Unknown "" 5638 Profile 2021-05-27 10:26:03 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 11 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4049 4049 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5639 male "" "" Unknown "" 5639 Frontal face 2022-02-25 22:59:37 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 1 7 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4049 4049 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5639 male "" "" Unknown "" 5639 Frontal face 2022-02-25 22:59:37 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 1 7 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4049 4049 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5640 male "" "" Unknown "" 5640 Profile 2021-05-27 10:26:49 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 1 7 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4049 4049 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5640 male "" "" Unknown "" 5640 Profile 2021-05-27 10:26:49 UTC 32765933 http://rdf.ncbi.nlm.nih.gov/pubmed/32765933 1 7 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3751 3751 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_5159 unknown "" "" "" "" 5159 Frontal face 2022-02-25 22:48:24 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 0 3 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3752 3752 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_5160 unknown "" "" "" "" 5160 Frontal face 2022-02-25 22:48:26 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 0 8 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/3753 3753 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_5161 unknown "" "" "" "" 5161 Frontal face 2022-02-25 22:48:28 UTC 30719840 http://rdf.ncbi.nlm.nih.gov/pubmed/30719840 1 2 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4234 4234 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5956 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5956 Frontal face 2022-02-25 23:06:16 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4234 4234 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5956 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5956 Frontal face 2022-02-25 23:06:16 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4235 4235 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5957 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5957 Frontal face 2022-02-25 23:06:18 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4235 4235 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5957 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5957 Frontal face 2022-02-25 23:06:18 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4236 4236 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5958 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5958 Frontal face 2022-02-25 23:06:19 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4236 4236 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5958 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5958 Frontal face 2022-02-25 23:06:19 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4237 4237 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5959 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5959 Frontal face 2022-02-25 23:06:22 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4237 4237 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5959 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5959 Frontal face 2022-02-25 23:06:22 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4238 4238 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5960 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5960 Frontal face 2022-02-25 23:06:23 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4238 4238 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5960 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5960 Frontal face 2022-02-25 23:06:23 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4239 4239 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5961 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5961 Frontal face 2022-02-25 23:06:25 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4239 4239 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5961 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5961 Frontal face 2022-02-25 23:06:25 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4240 4240 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5962 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5962 Frontal face 2022-02-25 23:06:27 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4240 4240 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5962 unknown RAI1 http://identifiers.org/ncbigene/10743 American - Latin/Hispanic Brasilian 5962 Frontal face 2022-02-25 23:06:27 UTC 22057962 http://rdf.ncbi.nlm.nih.gov/pubmed/22057962 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4221 4221 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5940 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5940 Frontal face 2022-02-25 23:05:52 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 5 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4221 4221 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5940 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5940 Frontal face 2022-02-25 23:05:52 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 5 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4221 4221 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5941 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5941 Profile 2021-06-05 16:13:00 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 5 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4221 4221 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5941 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5941 Profile 2021-06-05 16:13:00 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 5 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4222 4222 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5942 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5942 Frontal face 2022-02-25 23:05:53 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 2 5 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4222 4222 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5942 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5942 Frontal face 2022-02-25 23:05:53 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 2 5 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4223 4223 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5943 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5943 Frontal face 2022-02-25 23:05:56 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 3 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4223 4223 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5943 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5943 Frontal face 2022-02-25 23:05:56 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 3 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4224 4224 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5944 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5944 Frontal face 2022-02-25 23:05:57 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 6 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4224 4224 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5944 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5944 Frontal face 2022-02-25 23:05:57 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 6 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4224 4224 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5945 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5945 Profile 2021-06-05 16:15:49 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 6 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4224 4224 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5945 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5945 Profile 2021-06-05 16:15:49 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 6 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4225 4225 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5946 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5946 Frontal face 2022-02-25 23:06:00 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 3 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4225 4225 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5946 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5946 Frontal face 2022-02-25 23:06:00 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 3 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4226 4226 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5947 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5947 Frontal face 2022-02-25 23:06:01 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 2 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4226 4226 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5947 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5947 Frontal face 2022-02-25 23:06:01 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 2 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4227 4227 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5948 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5948 Frontal face 2022-02-25 23:06:03 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 5 5 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4227 4227 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5948 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5948 Frontal face 2022-02-25 23:06:03 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 5 5 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4227 4227 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5949 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5949 Profile 2021-06-05 16:20:57 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 5 5 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4227 4227 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5949 male RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5949 Profile 2021-06-05 16:20:57 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 5 5 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4228 4228 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5950 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5950 Frontal face 2022-02-25 23:06:04 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 2 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4228 4228 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5950 female RAI1 http://identifiers.org/ncbigene/10743 Asian - South/Indian "" 5950 Frontal face 2022-02-25 23:06:04 UTC 26676648 http://rdf.ncbi.nlm.nih.gov/pubmed/26676648 2 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4229 4229 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5951 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5951 Frontal face 2022-02-25 23:06:07 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4229 4229 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5951 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5951 Frontal face 2022-02-25 23:06:07 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4230 4230 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5952 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5952 Frontal face 2022-02-25 23:06:08 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4230 4230 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5952 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5952 Frontal face 2022-02-25 23:06:08 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4231 4231 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5953 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5953 Frontal face 2022-02-25 23:06:10 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4231 4231 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5953 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5953 Frontal face 2022-02-25 23:06:10 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4232 4232 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5954 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5954 Frontal face 2022-02-25 23:06:12 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4232 4232 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5954 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5954 Frontal face 2022-02-25 23:06:12 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4233 4233 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5955 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5955 Frontal face 2022-02-25 23:06:14 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/4233 4233 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_5955 unknown RAI1 http://identifiers.org/ncbigene/10743 Caucasian "" 5955 Frontal face 2022-02-25 23:06:14 UTC 26336863 http://rdf.ncbi.nlm.nih.gov/pubmed/26336863 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4241 4241 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5963 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5963 Frontal face 2022-02-25 23:06:29 UTC 24548020 http://rdf.ncbi.nlm.nih.gov/pubmed/24548020 10 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4241 4241 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5963 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5963 Frontal face 2022-02-25 23:06:29 UTC 24548020 http://rdf.ncbi.nlm.nih.gov/pubmed/24548020 10 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4242 4242 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5964 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5964 Frontal face 2022-02-25 23:06:30 UTC 24548020 http://rdf.ncbi.nlm.nih.gov/pubmed/24548020 6 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4242 4242 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5964 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5964 Frontal face 2022-02-25 23:06:30 UTC 24548020 http://rdf.ncbi.nlm.nih.gov/pubmed/24548020 6 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4243 4243 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5965 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5965 Frontal face 2022-02-25 23:06:33 UTC 24548020 http://rdf.ncbi.nlm.nih.gov/pubmed/24548020 2 5 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4243 4243 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5965 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5965 Frontal face 2022-02-25 23:06:33 UTC 24548020 http://rdf.ncbi.nlm.nih.gov/pubmed/24548020 2 5 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4244 4244 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5966 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5966 Frontal face 2022-02-25 23:06:34 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 17 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4244 4244 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5966 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5966 Frontal face 2022-02-25 23:06:34 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 17 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4244 4244 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5967 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5967 Profile 2021-06-06 09:31:59 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 17 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4244 4244 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5967 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5967 Profile 2021-06-06 09:31:59 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 17 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4245 4245 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5968 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5968 Frontal face 2022-02-25 23:06:37 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 11 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4245 4245 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5968 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5968 Frontal face 2022-02-25 23:06:37 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 11 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4245 4245 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5969 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5969 Profile 2021-06-06 09:35:15 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 11 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4245 4245 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5969 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5969 Profile 2021-06-06 09:35:15 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 11 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4246 4246 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5970 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5970 Frontal face 2022-02-25 23:06:38 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 12 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4246 4246 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5970 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5970 Frontal face 2022-02-25 23:06:38 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 12 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4246 4246 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5971 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5971 Profile 2023-11-20 11:27:49 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 12 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4246 4246 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5971 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5971 Profile 2023-11-20 11:27:49 UTC 16400610 http://rdf.ncbi.nlm.nih.gov/pubmed/16400610 12 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4247 4247 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5972 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5972 Frontal face 2022-02-25 23:06:41 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 2 5 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4247 4247 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5972 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5972 Frontal face 2022-02-25 23:06:41 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 2 5 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4248 4248 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5973 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5973 Frontal face 2022-02-25 23:06:42 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 5 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4248 4248 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5973 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5973 Frontal face 2022-02-25 23:06:42 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 5 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4249 4249 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5974 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5974 Frontal face 2022-02-25 23:06:45 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 7 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4249 4249 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5974 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5974 Frontal face 2022-02-25 23:06:45 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 7 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4250 4250 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5975 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5975 Frontal face 2022-02-25 23:06:46 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 9 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4250 4250 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5975 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5975 Frontal face 2022-02-25 23:06:46 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 9 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4251 4251 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5976 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5976 Frontal face 2022-02-25 23:06:48 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 15 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4251 4251 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5976 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5976 Frontal face 2022-02-25 23:06:48 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 15 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4252 4252 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5977 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5977 Frontal face 2022-02-25 23:06:49 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 18 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4252 4252 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5977 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5977 Frontal face 2022-02-25 23:06:49 UTC 20301296 http://rdf.ncbi.nlm.nih.gov/pubmed/20301296 18 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4253 4253 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5978 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5978 Frontal face 2022-02-25 23:06:52 UTC 29088501 http://rdf.ncbi.nlm.nih.gov/pubmed/29088501 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4253 4253 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5978 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5978 Frontal face 2022-02-25 23:06:52 UTC 29088501 http://rdf.ncbi.nlm.nih.gov/pubmed/29088501 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4254 4254 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5979 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5979 Frontal face 2022-02-25 23:06:53 UTC 29088501 http://rdf.ncbi.nlm.nih.gov/pubmed/29088501 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4254 4254 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5979 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5979 Frontal face 2022-02-25 23:06:53 UTC 29088501 http://rdf.ncbi.nlm.nih.gov/pubmed/29088501 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4255 4255 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5980 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5980 Frontal face 2022-02-25 23:06:55 UTC 29088501 http://rdf.ncbi.nlm.nih.gov/pubmed/29088501 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4255 4255 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5980 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 5980 Frontal face 2022-02-25 23:06:55 UTC 29088501 http://rdf.ncbi.nlm.nih.gov/pubmed/29088501 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4256 4256 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5981 female CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5981 Frontal face 2022-02-25 23:06:57 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4256 4256 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5981 female CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5981 Frontal face 2022-02-25 23:06:57 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4256 4256 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5982 female CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5982 Profile 2021-06-06 10:18:15 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4256 4256 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5982 female CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5982 Profile 2021-06-06 10:18:15 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4257 4257 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5983 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5983 Frontal face 2022-02-25 23:06:59 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 2 6 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4257 4257 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5983 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5983 Frontal face 2022-02-25 23:06:59 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 2 6 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4258 4258 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5984 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5984 Frontal face 2022-02-25 23:07:00 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 3 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4258 4258 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5984 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5984 Frontal face 2022-02-25 23:07:00 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 3 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4257 4257 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5985 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5985 Profile 2021-06-06 10:20:39 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 2 6 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4257 4257 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5985 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5985 Profile 2021-06-06 10:20:39 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 2 6 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4258 4258 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5986 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5986 Profile 2021-06-06 10:21:11 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 3 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4258 4258 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5986 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5986 Profile 2021-06-06 10:21:11 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 3 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4259 4259 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5987 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5987 Frontal face 2022-02-25 23:07:03 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 4 8 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4259 4259 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5987 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5987 Frontal face 2022-02-25 23:07:03 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 4 8 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4259 4259 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5988 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5988 Profile 2021-06-06 10:22:50 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 4 8 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4259 4259 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5988 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5988 Profile 2021-06-06 10:22:50 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 4 8 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4260 4260 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5989 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5989 Frontal face 2022-02-25 23:07:04 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4260 4260 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5989 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5989 Frontal face 2022-02-25 23:07:04 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4260 4260 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5990 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5990 Profile 2021-06-06 10:24:20 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4260 4260 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5990 male CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5990 Profile 2021-06-06 10:24:20 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4261 4261 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5991 female CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5991 Frontal face 2022-02-25 23:07:07 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4261 4261 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5991 female CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5991 Frontal face 2022-02-25 23:07:07 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4261 4261 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5992 female CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5992 Profile 2021-06-06 10:25:46 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4261 4261 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_5992 female CHD7 http://identifiers.org/ncbigene/55636 Asian "" 5992 Profile 2021-06-06 10:25:46 UTC 16615981 http://rdf.ncbi.nlm.nih.gov/pubmed/16615981 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4262 4262 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5993 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5993 Frontal face 2022-02-25 23:07:08 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 2 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4262 4262 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5993 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5993 Frontal face 2022-02-25 23:07:08 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 2 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4263 4263 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5994 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5994 Frontal face 2022-02-25 23:07:11 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 2 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4263 4263 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5994 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5994 Frontal face 2022-02-25 23:07:11 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 2 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4264 4264 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5995 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5995 Frontal face 2022-02-25 23:07:12 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4264 4264 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5995 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5995 Frontal face 2022-02-25 23:07:12 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4265 4265 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5996 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5996 Frontal face 2022-02-25 23:07:14 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4265 4265 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5996 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5996 Frontal face 2022-02-25 23:07:14 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4266 4266 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5997 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5997 Frontal face 2022-02-25 23:07:16 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4266 4266 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5997 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5997 Frontal face 2022-02-25 23:07:16 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4267 4267 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5998 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5998 Frontal face 2022-02-25 23:07:18 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4267 4267 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5998 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5998 Frontal face 2022-02-25 23:07:18 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4268 4268 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5999 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5999 Frontal face 2022-02-25 23:07:19 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4268 4268 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_5999 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 5999 Frontal face 2022-02-25 23:07:19 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4269 4269 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6000 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6000 Frontal face 2022-02-25 23:07:22 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4269 4269 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6000 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6000 Frontal face 2022-02-25 23:07:22 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4270 4270 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6001 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6001 Frontal face 2022-02-25 23:07:23 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4270 4270 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6001 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6001 Frontal face 2022-02-25 23:07:23 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4271 4271 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6002 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6002 Frontal face 2022-02-25 23:07:26 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4271 4271 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6002 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6002 Frontal face 2022-02-25 23:07:26 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4272 4272 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6003 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6003 Frontal face 2022-02-25 23:07:27 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4272 4272 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6003 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6003 Frontal face 2022-02-25 23:07:27 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4273 4273 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6004 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6004 Frontal face 2022-02-25 23:07:30 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/4273 4273 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_6004 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 6004 Frontal face 2022-02-25 23:07:30 UTC 21626673 http://rdf.ncbi.nlm.nih.gov/pubmed/21626673 0 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12076 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12076 Profile 2022-09-27 09:20:26 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 36 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12076 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12076 Profile 2022-09-27 09:20:26 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 36 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12077 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12077 Frontal face 2022-09-27 09:20:55 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 15 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12077 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12077 Frontal face 2022-09-27 09:20:55 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 15 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12078 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12078 Frontal face 2022-09-27 09:33:06 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 12 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12078 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12078 Frontal face 2022-09-27 09:33:06 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 12 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12079 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12079 Frontal face 2022-09-27 09:33:37 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 6 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12079 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12079 Frontal face 2022-09-27 09:33:37 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 6 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12080 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12080 Frontal face 2022-09-27 09:34:19 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 3 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_12080 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 12080 Frontal face 2022-09-27 09:34:19 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 3 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/443 443 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_12081 female USB1 http://identifiers.org/ncbigene/79650 European Turkish 12081 Profile 2022-09-27 11:25:01 UTC 25044170 http://rdf.ncbi.nlm.nih.gov/pubmed/25044170 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/444 444 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_12132 male USB1 http://identifiers.org/ncbigene/79650 European Turkish 12132 Profile 2022-09-28 14:44:06 UTC 25044170 http://rdf.ncbi.nlm.nih.gov/pubmed/25044170 0 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/438 438 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_549 male RECQL3 http://identifiers.org/ncbigene/641 Asian - East Chinese 549 Frontal face 2022-02-25 16:18:42 UTC 26919505 http://rdf.ncbi.nlm.nih.gov/pubmed/26919505 12 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/438 438 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_549 male RECQL3 http://identifiers.org/ncbigene/641 Asian - East Chinese 549 Frontal face 2022-02-25 16:18:42 UTC 26919505 http://rdf.ncbi.nlm.nih.gov/pubmed/26919505 12 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_550 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 550 Frontal face 2022-09-27 09:20:00 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 36 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/439 439 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_550 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian, European Ashkenazi Jewish, Netherlands 550 Frontal face 2022-09-27 09:20:00 UTC 29056561 http://rdf.ncbi.nlm.nih.gov/pubmed/29056561 36 0 "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/440 440 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_551 female ERCC8 http://identifiers.org/ncbigene/1161 African - North Egypt 551 Frontal face 2022-09-27 10:34:08 UTC 21477313 http://rdf.ncbi.nlm.nih.gov/pubmed/21477313 3 0 "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/441 441 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_552 male ERCC8 http://identifiers.org/ncbigene/1161 African - North Egypt 552 Frontal face 2022-09-27 10:34:38 UTC 21477313 http://rdf.ncbi.nlm.nih.gov/pubmed/21477313 4 0 "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/442 442 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_553 female ERCC8 http://identifiers.org/ncbigene/1161 African - North Egypt 553 Frontal face 2022-09-27 11:13:38 UTC 21477313 http://rdf.ncbi.nlm.nih.gov/pubmed/21477313 16 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/443 443 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_554 female USB1 http://identifiers.org/ncbigene/79650 European Turkish 554 Frontal face 2022-02-25 16:18:52 UTC 25044170 http://rdf.ncbi.nlm.nih.gov/pubmed/25044170 0 0 "" NANDO:2200749 MONDO:0011405 OMIM:604173 https://db.gestaltmatcher.org/patients/444 444 POIKILODERMA WITH NEUTROPENIA https://db.gestaltmatcher.org/patients/image_555 male USB1 http://identifiers.org/ncbigene/79650 European Turkish 555 Frontal face 2022-02-25 16:18:53 UTC 25044170 http://rdf.ncbi.nlm.nih.gov/pubmed/25044170 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4298 4298 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6029 male MECP2 http://identifiers.org/ncbigene/4204 European French 6029 Frontal face 2022-02-25 23:08:16 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4298 4298 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6030 male MECP2 http://identifiers.org/ncbigene/4204 European French 6030 Profile 2021-06-07 08:06:01 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4299 4299 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6031 male MECP2 http://identifiers.org/ncbigene/4204 European french 6031 Frontal face 2022-02-25 23:08:19 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4299 4299 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6032 male MECP2 http://identifiers.org/ncbigene/4204 European french 6032 Profile 2021-06-07 08:07:36 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4300 4300 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6033 male MECP2 http://identifiers.org/ncbigene/4204 European French 6033 Frontal face 2022-02-25 23:08:20 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4300 4300 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6034 male MECP2 http://identifiers.org/ncbigene/4204 European French 6034 Profile 2021-06-07 08:08:51 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4301 4301 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6035 male MECP2 http://identifiers.org/ncbigene/4204 European French 6035 Frontal face 2022-02-25 23:08:22 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4301 4301 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6036 male MECP2 http://identifiers.org/ncbigene/4204 European French 6036 Profile 2021-06-07 08:10:25 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4302 4302 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6037 male MECP2 http://identifiers.org/ncbigene/4204 European French 6037 Frontal face 2022-02-25 23:08:24 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4302 4302 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6038 male MECP2 http://identifiers.org/ncbigene/4204 European French 6038 Profile 2021-06-07 08:11:43 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4303 4303 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6039 male MECP2 http://identifiers.org/ncbigene/4204 European French 6039 Frontal face 2022-02-25 23:08:26 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4303 4303 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6040 male MECP2 http://identifiers.org/ncbigene/4204 European French 6040 Profile 2021-06-07 08:14:09 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4304 4304 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6041 male MECP2 http://identifiers.org/ncbigene/4204 European French 6041 Frontal face 2022-02-25 23:08:27 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4304 4304 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6042 male MECP2 http://identifiers.org/ncbigene/4204 European French 6042 Profile 2021-06-07 08:15:33 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4305 4305 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6043 male MECP2 http://identifiers.org/ncbigene/4204 European French 6043 Frontal face 2022-02-25 23:08:30 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4305 4305 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6044 male MECP2 http://identifiers.org/ncbigene/4204 European French 6044 Profile 2021-06-07 08:17:16 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4306 4306 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6045 male MECP2 http://identifiers.org/ncbigene/4204 European French 6045 Frontal face 2022-02-25 23:08:31 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4306 4306 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6046 male MECP2 http://identifiers.org/ncbigene/4204 European French 6046 Profile 2021-06-07 08:18:44 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4307 4307 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6047 male MECP2 http://identifiers.org/ncbigene/4204 European French 6047 Frontal face 2022-02-25 23:08:34 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4307 4307 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6048 male MECP2 http://identifiers.org/ncbigene/4204 European French 6048 Profile 2021-06-07 08:20:01 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4308 4308 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6049 unknown MECP2 http://identifiers.org/ncbigene/4204 European French 6049 Frontal face 2022-02-25 23:08:35 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4308 4308 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6050 unknown MECP2 http://identifiers.org/ncbigene/4204 European French 6050 Profile 2021-06-07 08:21:34 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4310 4310 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6053 male MECP2 http://identifiers.org/ncbigene/4204 European French 6053 Frontal face 2022-02-25 23:08:39 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4310 4310 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6054 male MECP2 http://identifiers.org/ncbigene/4204 European French 6054 Profile 2021-06-07 08:24:14 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4311 4311 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6055 male MECP2 http://identifiers.org/ncbigene/4204 European French 6055 Frontal face 2022-02-25 23:08:41 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4311 4311 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6056 male MECP2 http://identifiers.org/ncbigene/4204 European French 6056 Profile 2021-06-07 08:25:36 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4313 4313 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6059 male MECP2 http://identifiers.org/ncbigene/4204 European French 6059 Frontal face 2022-02-25 23:08:45 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4313 4313 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6060 male MECP2 http://identifiers.org/ncbigene/4204 European French 6060 Profile 2021-06-07 08:28:53 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4314 4314 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6061 male MECP2 http://identifiers.org/ncbigene/4204 European French 6061 Frontal face 2022-02-25 23:08:46 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4314 4314 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6062 male MECP2 http://identifiers.org/ncbigene/4204 European French 6062 Profile 2021-06-07 08:37:45 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4315 4315 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6063 unknown MECP2 http://identifiers.org/ncbigene/4204 European French 6063 Frontal face 2022-02-25 23:08:49 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4315 4315 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6064 unknown MECP2 http://identifiers.org/ncbigene/4204 European French 6064 Profile 2021-06-07 08:39:07 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4316 4316 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6065 male MECP2 http://identifiers.org/ncbigene/4204 European French 6065 Frontal face 2022-02-25 23:08:50 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4316 4316 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6066 male MECP2 http://identifiers.org/ncbigene/4204 European French 6066 Profile 2021-06-07 08:40:54 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4318 4318 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6069 male MECP2 http://identifiers.org/ncbigene/4204 European French 6069 Frontal face 2022-02-25 23:08:53 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4318 4318 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6070 male MECP2 http://identifiers.org/ncbigene/4204 European French 6070 Profile 2021-06-07 08:44:02 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4319 4319 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6071 male MECP2 http://identifiers.org/ncbigene/4204 European French 6071 Frontal face 2022-02-25 23:08:56 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4319 4319 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6072 male MECP2 http://identifiers.org/ncbigene/4204 European French 6072 Profile 2021-06-07 08:45:44 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4320 4320 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6073 male MECP2 http://identifiers.org/ncbigene/4204 European French 6073 Frontal face 2022-02-25 23:08:57 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4320 4320 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6074 male MECP2 http://identifiers.org/ncbigene/4204 European French 6074 Profile 2021-06-07 08:47:47 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4321 4321 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6075 male MECP2 http://identifiers.org/ncbigene/4204 European French 6075 Frontal face 2022-02-25 23:09:00 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4321 4321 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6076 male MECP2 http://identifiers.org/ncbigene/4204 European French 6076 Profile 2021-06-07 08:49:16 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4322 4322 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6077 male MECP2 http://identifiers.org/ncbigene/4204 European French 6077 Frontal face 2022-02-25 23:09:01 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4322 4322 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6078 male MECP2 http://identifiers.org/ncbigene/4204 European French 6078 Profile 2021-06-07 08:50:55 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4323 4323 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6079 male MECP2 http://identifiers.org/ncbigene/4204 European French 6079 Frontal face 2022-02-25 23:09:04 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4323 4323 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6080 male MECP2 http://identifiers.org/ncbigene/4204 European French 6080 Profile 2021-06-07 08:52:38 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4324 4324 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6081 male MECP2 http://identifiers.org/ncbigene/4204 European French 6081 Frontal face 2022-02-25 23:09:05 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4324 4324 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6082 male MECP2 http://identifiers.org/ncbigene/4204 European French 6082 Profile 2021-06-07 08:53:57 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4325 4325 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6083 male MECP2 http://identifiers.org/ncbigene/4204 European French 6083 Frontal face 2022-02-25 23:09:07 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4326 4326 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6084 male MECP2 http://identifiers.org/ncbigene/4204 European French 6084 Frontal face 2022-02-25 23:09:09 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4327 4327 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6085 male MECP2 http://identifiers.org/ncbigene/4204 European French 6085 Frontal face 2022-02-25 23:09:11 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4327 4327 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6086 male MECP2 http://identifiers.org/ncbigene/4204 European French 6086 Profile 2021-06-07 08:57:03 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4346 4346 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6116 unknown TCF4 http://identifiers.org/ncbigene/6925 European assumed 6116 Frontal face 2022-02-25 23:09:50 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4346 4346 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6117 unknown TCF4 http://identifiers.org/ncbigene/6925 European assumed 6117 Profile 2021-06-07 14:24:34 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4352 4352 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6127 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic Brasilian 6127 Frontal face 2022-02-25 23:10:03 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4352 4352 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6127 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic Brasilian 6127 Frontal face 2022-02-25 23:10:03 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4352 4352 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6128 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic Brasilian 6128 Frontal face 2022-02-25 23:10:05 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4352 4352 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6128 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic Brasilian 6128 Frontal face 2022-02-25 23:10:05 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4352 4352 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6129 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic Brasilian 6129 Frontal face 2022-02-25 23:10:07 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4352 4352 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6129 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic Brasilian 6129 Frontal face 2022-02-25 23:10:07 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4352 4352 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6130 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic Brasilian 6130 Frontal face 2022-02-25 23:10:08 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4352 4352 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6130 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic Brasilian 6130 Frontal face 2022-02-25 23:10:08 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4353 4353 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6131 male HRAS http://identifiers.org/ncbigene/3265 Asian, European european Japanese 6131 Frontal face 2022-02-25 23:10:11 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4353 4353 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6131 male HRAS http://identifiers.org/ncbigene/3265 Asian, European european Japanese 6131 Frontal face 2022-02-25 23:10:11 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4353 4353 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6132 male HRAS http://identifiers.org/ncbigene/3265 Asian, European european Japanese 6132 Frontal face 2022-02-25 23:10:12 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4353 4353 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6132 male HRAS http://identifiers.org/ncbigene/3265 Asian, European european Japanese 6132 Frontal face 2022-02-25 23:10:12 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4354 4354 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6133 female HRAS http://identifiers.org/ncbigene/3265 Asian - West/Middle Eastern turkey/ libanon 6133 Frontal face 2022-02-25 23:10:15 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4354 4354 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6133 female HRAS http://identifiers.org/ncbigene/3265 Asian - West/Middle Eastern turkey/ libanon 6133 Frontal face 2022-02-25 23:10:15 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4354 4354 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6134 female HRAS http://identifiers.org/ncbigene/3265 Asian - West/Middle Eastern turkey/ libanon 6134 Frontal face 2022-02-25 23:10:16 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4354 4354 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6134 female HRAS http://identifiers.org/ncbigene/3265 Asian - West/Middle Eastern turkey/ libanon 6134 Frontal face 2022-02-25 23:10:16 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/4469 4469 STICKLER SYNDROME, TYPE I https://db.gestaltmatcher.org/patients/image_6328 male COL2A1 http://identifiers.org/ncbigene/1280 Asian - West/Middle Eastern Turkish 6328 Frontal face 2022-02-25 23:14:56 UTC 28983407 http://rdf.ncbi.nlm.nih.gov/pubmed/28983407 8 5 "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/4469 4469 STICKLER SYNDROME, TYPE I https://db.gestaltmatcher.org/patients/image_6329 male COL2A1 http://identifiers.org/ncbigene/1280 Asian - West/Middle Eastern Turkish 6329 Profile 2021-06-08 13:20:38 UTC 28983407 http://rdf.ncbi.nlm.nih.gov/pubmed/28983407 8 5 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4531 4531 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_6426 female AHDC1 http://identifiers.org/ncbigene/27245 American - Latin/Hispanic Colombian 6426 Frontal face 2022-02-25 23:17:14 UTC 29230160 http://rdf.ncbi.nlm.nih.gov/pubmed/29230160 5 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4531 4531 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_6427 female AHDC1 http://identifiers.org/ncbigene/27245 American - Latin/Hispanic Colombian 6427 Profile 2021-06-08 17:40:44 UTC 29230160 http://rdf.ncbi.nlm.nih.gov/pubmed/29230160 5 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6138 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6138 Frontal face 2022-02-25 23:10:22 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 0 0 birth NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6138 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6138 Frontal face 2022-02-25 23:10:22 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 0 0 birth NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4309 4309 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6051 male MECP2 http://identifiers.org/ncbigene/4204 European "" 6051 Frontal face 2022-02-25 23:08:37 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4309 4309 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6052 male MECP2 http://identifiers.org/ncbigene/4204 European "" 6052 Profile 2021-06-07 08:22:47 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4312 4312 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6057 male MECP2 http://identifiers.org/ncbigene/4204 European "" 6057 Frontal face 2022-02-25 23:08:43 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4312 4312 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6058 male MECP2 http://identifiers.org/ncbigene/4204 European "" 6058 Profile 2021-06-07 08:26:47 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4317 4317 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6067 male MECP2 http://identifiers.org/ncbigene/4204 European "" 6067 Frontal face 2022-02-25 23:08:52 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/4317 4317 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_6068 male MECP2 http://identifiers.org/ncbigene/4204 European "" 6068 Profile 2021-06-07 08:42:14 UTC 29618507 http://rdf.ncbi.nlm.nih.gov/pubmed/29618507 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4328 4328 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6087 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6087 Frontal face 2022-02-25 23:09:12 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 0 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4328 4328 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6088 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6088 Frontal face 2022-02-25 23:09:15 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 1 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4328 4328 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6089 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6089 Frontal face 2022-02-25 23:09:16 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 14 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4329 4329 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6090 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6090 Frontal face 2022-02-25 23:09:18 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 29 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4329 4329 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6091 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6091 Profile 2021-06-07 13:33:09 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 29 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4330 4330 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6092 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6092 Frontal face 2022-02-25 23:09:20 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 0 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4330 4330 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6093 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6093 Profile 2021-06-07 13:37:51 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 0 6 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4330 4330 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6094 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6094 Profile 2021-06-07 13:38:22 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 11 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4331 4331 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6095 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6095 Profile 2021-06-07 13:40:16 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 3 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4331 4331 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6096 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6096 Frontal face 2022-02-25 23:09:22 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 6 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4331 4331 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6097 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6097 Profile 2021-06-07 13:41:03 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 8 7 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4332 4332 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6098 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6098 Frontal face 2022-02-25 23:09:23 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 12 5 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4332 4332 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6099 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6099 Profile 2021-06-07 13:56:02 UTC 17436255 http://rdf.ncbi.nlm.nih.gov/pubmed/17436255 12 5 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4333 4333 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6100 unknown TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6100 Frontal face 2022-02-25 23:09:26 UTC 30677142 http://rdf.ncbi.nlm.nih.gov/pubmed/30677142 1 3 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4334 4334 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6101 unknown TCF4 http://identifiers.org/ncbigene/6925 Asian "" 6101 Frontal face 2022-02-25 23:09:27 UTC 30677142 http://rdf.ncbi.nlm.nih.gov/pubmed/30677142 1 8 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4335 4335 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6102 unknown TCF4 http://identifiers.org/ncbigene/6925 Asian "" 6102 Frontal face 2022-02-25 23:09:30 UTC 30677142 http://rdf.ncbi.nlm.nih.gov/pubmed/30677142 8 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4336 4336 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6103 unknown TCF4 http://identifiers.org/ncbigene/6925 Unknown "" 6103 Frontal face 2022-02-25 23:09:31 UTC 30677142 http://rdf.ncbi.nlm.nih.gov/pubmed/30677142 10 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4337 4337 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6104 unknown TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6104 Frontal face 2022-02-25 23:09:33 UTC 30677142 http://rdf.ncbi.nlm.nih.gov/pubmed/30677142 15 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4338 4338 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6105 unknown TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6105 Frontal face 2022-02-25 23:09:35 UTC 30677142 http://rdf.ncbi.nlm.nih.gov/pubmed/30677142 16 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4339 4339 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6106 female TCF4 http://identifiers.org/ncbigene/6925 European "" 6106 Frontal face 2022-02-25 23:09:37 UTC 30677142 http://rdf.ncbi.nlm.nih.gov/pubmed/30677142 18 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4340 4340 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6107 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6107 Frontal face 2022-02-25 23:09:38 UTC 30677142 http://rdf.ncbi.nlm.nih.gov/pubmed/30677142 31 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4341 4341 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6108 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6108 Frontal face 2022-02-25 23:09:41 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4341 4341 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6109 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6109 Profile 2021-06-07 14:19:08 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4342 4342 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6110 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6110 Frontal face 2022-02-25 23:09:42 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4342 4342 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6111 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6111 Profile 2021-06-07 14:20:22 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4343 4343 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6112 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6112 Frontal face 2022-02-25 23:09:44 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4344 4344 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6113 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6113 Frontal face 2022-02-25 23:09:46 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4345 4345 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6114 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6114 Frontal face 2022-02-25 23:09:48 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4345 4345 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6115 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6115 Profile 2021-06-07 14:23:25 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4347 4347 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6118 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6118 Frontal face 2022-02-25 23:09:52 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4347 4347 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6119 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6119 Frontal face 2022-02-25 23:09:53 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4348 4348 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6120 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6120 Frontal face 2022-02-25 23:09:56 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4348 4348 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6121 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6121 Profile 2021-06-07 14:28:19 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4349 4349 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6122 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6122 Frontal face 2022-02-25 23:09:57 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4349 4349 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6123 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6123 Profile 2021-06-07 14:29:30 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4350 4350 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6124 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6124 Frontal face 2022-02-25 23:09:59 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4351 4351 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6125 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6125 Frontal face 2022-02-25 23:10:01 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4351 4351 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6126 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6126 Profile 2021-06-07 14:31:08 UTC 27617128 http://rdf.ncbi.nlm.nih.gov/pubmed/27617128 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4355 4355 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6135 female HRAS http://identifiers.org/ncbigene/3265 European "" 6135 Frontal face 2022-02-25 23:10:18 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4355 4355 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6135 female HRAS http://identifiers.org/ncbigene/3265 European "" 6135 Frontal face 2022-02-25 23:10:18 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4355 4355 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6136 female HRAS http://identifiers.org/ncbigene/3265 European "" 6136 Profile 2021-06-07 15:15:27 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4355 4355 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6136 female HRAS http://identifiers.org/ncbigene/3265 European "" 6136 Profile 2021-06-07 15:15:27 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4356 4356 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6137 female HRAS http://identifiers.org/ncbigene/3265 European "" 6137 Frontal face 2022-02-25 23:10:20 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4356 4356 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6137 female HRAS http://identifiers.org/ncbigene/3265 European "" 6137 Frontal face 2022-02-25 23:10:20 UTC 28371260 http://rdf.ncbi.nlm.nih.gov/pubmed/28371260 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6139 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6139 Frontal face 2022-02-25 23:10:23 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 0 5 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6139 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6139 Frontal face 2022-02-25 23:10:23 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 0 5 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6140 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6140 Frontal face 2022-02-25 23:10:26 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 1 6 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6140 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6140 Frontal face 2022-02-25 23:10:26 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 1 6 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6141 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6141 Frontal face 2022-02-25 23:10:27 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 4 6 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6141 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6141 Frontal face 2022-02-25 23:10:27 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 4 6 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6142 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6142 Frontal face 2022-02-25 23:10:30 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 15 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6142 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6142 Frontal face 2022-02-25 23:10:30 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 15 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6143 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6143 Frontal face 2022-02-25 23:10:31 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 23 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4357 4357 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6143 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6143 Frontal face 2022-02-25 23:10:31 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 23 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4358 4358 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6144 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6144 Frontal face 2022-02-25 23:10:33 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 3 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4358 4358 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6144 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6144 Frontal face 2022-02-25 23:10:33 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 3 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4359 4359 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6145 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic "" 6145 Frontal face 2022-02-25 23:10:34 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 3 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4359 4359 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6145 female HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic "" 6145 Frontal face 2022-02-25 23:10:34 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 3 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4361 4361 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6146 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6146 Frontal face 2022-02-25 23:10:37 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 3 6 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4361 4361 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6146 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6146 Frontal face 2022-02-25 23:10:37 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 3 6 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4362 4362 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6147 female HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6147 Frontal face 2022-02-25 23:10:38 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 5 6 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4362 4362 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6147 female HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6147 Frontal face 2022-02-25 23:10:38 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 5 6 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4363 4363 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6148 female HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6148 Frontal face 2022-02-25 23:10:41 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 6 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4363 4363 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6148 female HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6148 Frontal face 2022-02-25 23:10:41 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 6 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4364 4364 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6149 male HRAS http://identifiers.org/ncbigene/3265 Asian "" 6149 Frontal face 2022-02-25 23:10:42 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 26 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4364 4364 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6149 male HRAS http://identifiers.org/ncbigene/3265 Asian "" 6149 Frontal face 2022-02-25 23:10:42 UTC 31222966 http://rdf.ncbi.nlm.nih.gov/pubmed/31222966 26 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4365 4365 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6150 female HRAS http://identifiers.org/ncbigene/3265 European "" 6150 Frontal face 2022-02-25 23:10:44 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 0 11 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4365 4365 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6150 female HRAS http://identifiers.org/ncbigene/3265 European "" 6150 Frontal face 2022-02-25 23:10:44 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 0 11 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4365 4365 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6151 female HRAS http://identifiers.org/ncbigene/3265 European "" 6151 Frontal face 2022-02-25 23:10:46 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 3 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4365 4365 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6151 female HRAS http://identifiers.org/ncbigene/3265 European "" 6151 Frontal face 2022-02-25 23:10:46 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 3 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4365 4365 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6152 female HRAS http://identifiers.org/ncbigene/3265 European "" 6152 Frontal face 2022-02-25 23:10:48 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 15 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4365 4365 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6152 female HRAS http://identifiers.org/ncbigene/3265 European "" 6152 Frontal face 2022-02-25 23:10:48 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 15 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4365 4365 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6153 female HRAS http://identifiers.org/ncbigene/3265 European "" 6153 Profile 2023-01-01 14:39:59 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 15 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4365 4365 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6153 female HRAS http://identifiers.org/ncbigene/3265 European "" 6153 Profile 2023-01-01 14:39:59 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 15 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4366 4366 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6154 male HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic "" 6154 Frontal face 2022-02-25 23:10:52 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 8 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4366 4366 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6154 male HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic "" 6154 Frontal face 2022-02-25 23:10:52 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 8 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4366 4366 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6155 male HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic "" 6155 Profile 2021-06-07 15:53:30 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 8 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4366 4366 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6155 male HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic "" 6155 Profile 2021-06-07 15:53:30 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 8 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4366 4366 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6156 male HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic "" 6156 Profile 2021-06-07 15:53:46 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 8 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4366 4366 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6156 male HRAS http://identifiers.org/ncbigene/3265 American - Latin/Hispanic "" 6156 Profile 2021-06-07 15:53:46 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 8 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4367 4367 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6157 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6157 Frontal face 2022-02-25 23:10:53 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 1 1 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4367 4367 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6157 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6157 Frontal face 2022-02-25 23:10:53 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 1 1 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4367 4367 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6158 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6158 Frontal face 2022-02-25 23:10:56 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 1 1 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4367 4367 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6158 male HRAS http://identifiers.org/ncbigene/3265 Caucasian "" 6158 Frontal face 2022-02-25 23:10:56 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 1 1 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4368 4368 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6159 female HRAS http://identifiers.org/ncbigene/3265 European "" 6159 Frontal face 2022-02-25 23:10:57 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4368 4368 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6159 female HRAS http://identifiers.org/ncbigene/3265 European "" 6159 Frontal face 2022-02-25 23:10:57 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4368 4368 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6160 female HRAS http://identifiers.org/ncbigene/3265 European "" 6160 Profile 2021-06-07 16:00:41 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/4368 4368 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_6160 female HRAS http://identifiers.org/ncbigene/3265 European "" 6160 Profile 2021-06-07 16:00:41 UTC 25914166 http://rdf.ncbi.nlm.nih.gov/pubmed/25914166 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4369 4369 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6161 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6161 Frontal face 2022-02-25 23:10:59 UTC 17478476 http://rdf.ncbi.nlm.nih.gov/pubmed/17478476 6 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4369 4369 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6162 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6162 Profile 2021-06-07 18:40:07 UTC 17478476 http://rdf.ncbi.nlm.nih.gov/pubmed/17478476 6 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4370 4370 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6163 unknown TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6163 Frontal face 2022-02-25 23:11:01 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4371 4371 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6164 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6164 Frontal face 2022-02-25 23:11:03 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4372 4372 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6165 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6165 Frontal face 2022-02-25 23:11:04 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4373 4373 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6166 male TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6166 Frontal face 2022-02-25 23:11:07 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4374 4374 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6167 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6167 Frontal face 2022-02-25 23:11:08 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4375 4375 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6168 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6168 Frontal face 2022-02-25 23:11:11 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4376 4376 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6169 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6169 Frontal face 2022-02-25 23:11:12 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4377 4377 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6170 female TCF4 http://identifiers.org/ncbigene/6925 Caucasian "" 6170 Frontal face 2022-02-25 23:11:15 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4378 4378 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6171 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6171 Frontal face 2022-02-25 23:11:16 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4379 4379 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6172 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6172 Frontal face 2022-02-25 23:11:18 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4380 4380 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6173 female TCF4 http://identifiers.org/ncbigene/6925 Unknown "" 6173 Frontal face 2022-02-25 23:11:19 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4380 4380 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6174 female TCF4 http://identifiers.org/ncbigene/6925 Unknown "" 6174 Profile 2021-06-07 18:49:23 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4381 4381 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6175 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6175 Frontal face 2022-02-25 23:11:22 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/4381 4381 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_6176 unknown TCF4 http://identifiers.org/ncbigene/6925 European "" 6176 Profile 2021-06-07 18:49:56 UTC 19235238 http://rdf.ncbi.nlm.nih.gov/pubmed/19235238 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4382 4382 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6177 male ICR1 http://identifiers.org/ncbigene/105259599 Caucasian "" 6177 Frontal face 2022-02-25 23:11:23 UTC 21863054 http://rdf.ncbi.nlm.nih.gov/pubmed/21863054 3 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4382 4382 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6178 male ICR1 http://identifiers.org/ncbigene/105259599 Caucasian "" 6178 Frontal face 2022-02-25 23:11:26 UTC 21863054 http://rdf.ncbi.nlm.nih.gov/pubmed/21863054 21 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4383 4383 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6179 male ICR1 http://identifiers.org/ncbigene/105259599 Caucasian "" 6179 Frontal face 2022-02-25 23:11:27 UTC 21863054 http://rdf.ncbi.nlm.nih.gov/pubmed/21863054 1 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4383 4383 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6180 male ICR1 http://identifiers.org/ncbigene/105259599 Caucasian "" 6180 Frontal face 2022-02-25 23:11:30 UTC 21863054 http://rdf.ncbi.nlm.nih.gov/pubmed/21863054 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4384 4384 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6181 female ICR1 http://identifiers.org/ncbigene/105259599 Asian - South/Indian "" 6181 Frontal face 2022-02-25 23:11:30 UTC 31997239 http://rdf.ncbi.nlm.nih.gov/pubmed/31997239 0 4 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4385 4385 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6182 female ICR1 http://identifiers.org/ncbigene/105259599 Asian - South/Indian "" 6182 Frontal face 2022-02-25 23:11:33 UTC 31997239 http://rdf.ncbi.nlm.nih.gov/pubmed/31997239 0 10 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4386 4386 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6183 female ICR1 http://identifiers.org/ncbigene/105259599 Asian - South/Indian "" 6183 Frontal face 2022-02-25 23:11:34 UTC 31997239 http://rdf.ncbi.nlm.nih.gov/pubmed/31997239 1 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4387 4387 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6184 female ICR1 http://identifiers.org/ncbigene/105259599 Asian - South/Indian "" 6184 Frontal face 2022-02-25 23:11:37 UTC 31997239 http://rdf.ncbi.nlm.nih.gov/pubmed/31997239 1 4 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4388 4388 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6185 male ICR1 http://identifiers.org/ncbigene/105259599 Asian - South/Indian "" 6185 Frontal face 2022-02-25 23:11:38 UTC 31997239 http://rdf.ncbi.nlm.nih.gov/pubmed/31997239 3 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/4388 4388 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_6186 male ICR1 http://identifiers.org/ncbigene/105259599 Asian - South/Indian "" 6186 Frontal face 2022-02-25 23:11:40 UTC 31997239 http://rdf.ncbi.nlm.nih.gov/pubmed/31997239 5 9 "" NANDO:2200974 MONDO:0010631 OMIM:308300 https://db.gestaltmatcher.org/patients/4543 4543 INCONTINENTIA PIGMENTI https://db.gestaltmatcher.org/patients/image_13694 female NAA15 http://identifiers.org/ncbigene/80155 Caucasian "" 13694 Frontal face 2023-01-12 21:35:04 UTC "" "" 0 0 "" NANDO:2200974 MONDO:0010631 OMIM:308300 https://db.gestaltmatcher.org/patients/4543 4543 INCONTINENTIA PIGMENTI https://db.gestaltmatcher.org/patients/image_13695 female NAA15 http://identifiers.org/ncbigene/80155 Caucasian "" 13695 Frontal face 2023-01-12 21:35:17 UTC "" "" 0 0 "" NANDO:2200974 MONDO:0010631 OMIM:308300 https://db.gestaltmatcher.org/patients/4543 4543 INCONTINENTIA PIGMENTI https://db.gestaltmatcher.org/patients/image_6449 female NAA15 http://identifiers.org/ncbigene/80155 Caucasian "" 6449 Frontal face 2022-02-25 23:17:50 UTC "" "" 0 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/436 436 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_548 male RECQL3 http://identifiers.org/ncbigene/641 "" "" 548 Frontal face 2022-02-25 16:18:41 UTC 28232778 http://rdf.ncbi.nlm.nih.gov/pubmed/28232778 0 0 "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/436 436 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_548 male RECQL3 http://identifiers.org/ncbigene/641 "" "" 548 Frontal face 2022-02-25 16:18:41 UTC 28232778 http://rdf.ncbi.nlm.nih.gov/pubmed/28232778 0 0 "" NANDO:2201529 MONDO:0016369 OMIM:268400 https://db.gestaltmatcher.org/patients/449 449 ROTHMUND-THOMSON SYNDROME, TYPE 2 https://db.gestaltmatcher.org/patients/image_560 male RECQL4 http://identifiers.org/ncbigene/9401 "" "" 560 Frontal face 2022-10-20 09:17:16 UTC 26032705 http://rdf.ncbi.nlm.nih.gov/pubmed/26032705 7 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4532 4532 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_6428 female AHDC1 http://identifiers.org/ncbigene/27245 "" "" 6428 Frontal face 2022-02-25 23:17:17 UTC 30152016 http://rdf.ncbi.nlm.nih.gov/pubmed/30152016 0 3 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4532 4532 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_6429 female AHDC1 http://identifiers.org/ncbigene/27245 "" "" 6429 Profile 2021-06-08 17:44:24 UTC 30152016 http://rdf.ncbi.nlm.nih.gov/pubmed/30152016 0 3 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4532 4532 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_6430 female AHDC1 http://identifiers.org/ncbigene/27245 "" "" 6430 Frontal face 2022-02-25 23:17:18 UTC 30152016 http://rdf.ncbi.nlm.nih.gov/pubmed/30152016 3 6 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4532 4532 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_6431 female AHDC1 http://identifiers.org/ncbigene/27245 "" "" 6431 Profile 2021-06-08 17:44:49 UTC 30152016 http://rdf.ncbi.nlm.nih.gov/pubmed/30152016 3 6 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4532 4532 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_6432 female AHDC1 http://identifiers.org/ncbigene/27245 "" "" 6432 Frontal face 2022-02-25 23:17:21 UTC 30152016 http://rdf.ncbi.nlm.nih.gov/pubmed/30152016 11 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4532 4532 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_6433 female AHDC1 http://identifiers.org/ncbigene/27245 "" "" 6433 Frontal face 2022-02-25 23:17:22 UTC 30152016 http://rdf.ncbi.nlm.nih.gov/pubmed/30152016 14 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4533 4533 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_6434 male AHDC1 http://identifiers.org/ncbigene/27245 "" "" 6434 Frontal face 2022-02-25 23:17:24 UTC 30152016 http://rdf.ncbi.nlm.nih.gov/pubmed/30152016 13 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/43 43 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_52 female "" "" "" Indian 52 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/43 43 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_52 female "" "" "" Indian 52 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/44 44 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_53 male "" "" "" Indian 53 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/44 44 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_53 male "" "" "" Indian 53 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 9 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/45 45 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_54 female "" "" "" Indian 54 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/45 45 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_54 female "" "" "" Indian 54 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/46 46 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_55 female "" "" "" Malaysian 55 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 1 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/46 46 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_55 female "" "" "" Malaysian 55 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 1 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/46 46 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_56 female "" "" "" Malaysian 56 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 1 "" NANDO:1200664 MONDO:0008678 OMIM:194050 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Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 9 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/47 47 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_58 female "" "" "" Malaysian 58 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 9 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/4910 4910 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_21246 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 21246 MRI 2024-10-04 13:42:31 UTC 31825161 http://rdf.ncbi.nlm.nih.gov/pubmed/31825161 19 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/4910 4910 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_7243 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 7243 Frontal face 2022-02-25 23:35:09 UTC 31825161 http://rdf.ncbi.nlm.nih.gov/pubmed/31825161 1 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/4910 4910 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_7244 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 7244 Frontal face 2022-02-25 23:35:12 UTC 31825161 http://rdf.ncbi.nlm.nih.gov/pubmed/31825161 19 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/4910 4910 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_7245 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 7245 Limbs 2021-08-16 17:38:58 UTC 31825161 http://rdf.ncbi.nlm.nih.gov/pubmed/31825161 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/4761 4761 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_6946 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 6946 Frontal face 2022-02-25 23:28:50 UTC 33510600 http://rdf.ncbi.nlm.nih.gov/pubmed/33510600 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/4761 4761 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_6946 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 6946 Frontal face 2022-02-25 23:28:50 UTC 33510600 http://rdf.ncbi.nlm.nih.gov/pubmed/33510600 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/4762 4762 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_6947 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 6947 Frontal face 2022-02-25 23:28:53 UTC 33510600 http://rdf.ncbi.nlm.nih.gov/pubmed/33510600 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/4762 4762 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_6947 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 6947 Frontal face 2022-02-25 23:28:53 UTC 33510600 http://rdf.ncbi.nlm.nih.gov/pubmed/33510600 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/4763 4763 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_6948 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 6948 Frontal face 2022-02-25 23:28:54 UTC 33510600 http://rdf.ncbi.nlm.nih.gov/pubmed/33510600 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/4763 4763 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_6948 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 6948 Frontal face 2022-02-25 23:28:54 UTC 33510600 http://rdf.ncbi.nlm.nih.gov/pubmed/33510600 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/4764 4764 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_6949 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 6949 Frontal face 2022-02-25 23:28:56 UTC 33510600 http://rdf.ncbi.nlm.nih.gov/pubmed/33510600 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/4764 4764 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_6949 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 6949 Frontal face 2022-02-25 23:28:56 UTC 33510600 http://rdf.ncbi.nlm.nih.gov/pubmed/33510600 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4773 4773 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6970 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6970 Frontal face 2022-02-25 23:29:17 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4773 4773 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6970 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6970 Frontal face 2022-02-25 23:29:17 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4773 4773 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6971 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6971 Profile 2021-08-14 15:46:22 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4773 4773 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6971 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6971 Profile 2021-08-14 15:46:22 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4773 4773 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6972 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6972 Frontal face 2022-02-25 23:29:19 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4773 4773 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6972 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6972 Frontal face 2022-02-25 23:29:19 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4773 4773 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6973 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6973 Frontal face 2022-02-25 23:29:21 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4773 4773 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6973 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6973 Frontal face 2022-02-25 23:29:21 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4774 4774 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6974 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6974 Frontal face 2022-02-25 23:29:23 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4774 4774 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6974 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6974 Frontal face 2022-02-25 23:29:23 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4774 4774 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6975 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6975 Profile 2021-08-14 15:47:25 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4774 4774 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6975 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6975 Profile 2021-08-14 15:47:25 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4774 4774 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6976 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6976 Frontal face 2022-02-25 23:29:24 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4774 4774 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6976 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6976 Frontal face 2022-02-25 23:29:24 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4775 4775 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6977 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6977 Frontal face 2022-02-25 23:29:27 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4775 4775 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6977 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6977 Frontal face 2022-02-25 23:29:27 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4775 4775 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6978 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6978 Profile 2021-08-14 15:48:11 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4775 4775 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6978 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6978 Profile 2021-08-14 15:48:11 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4776 4776 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6979 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6979 Frontal face 2022-02-25 23:29:28 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4776 4776 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6979 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6979 Frontal face 2022-02-25 23:29:28 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4776 4776 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6980 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6980 Frontal face 2022-02-25 23:29:31 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4776 4776 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6980 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6980 Frontal face 2022-02-25 23:29:31 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4776 4776 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6981 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6981 Profile 2021-08-14 15:48:59 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4776 4776 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6981 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6981 Profile 2021-08-14 15:48:59 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4776 4776 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6982 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6982 Frontal face 2022-02-25 23:29:32 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4776 4776 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6982 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6982 Frontal face 2022-02-25 23:29:32 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4777 4777 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6983 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6983 Frontal face 2022-02-25 23:29:35 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4777 4777 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6983 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6983 Frontal face 2022-02-25 23:29:35 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4777 4777 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6984 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6984 Frontal face 2022-02-25 23:29:36 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4777 4777 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6984 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6984 Frontal face 2022-02-25 23:29:36 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4777 4777 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6985 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6985 Profile 2021-08-14 15:50:02 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4777 4777 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6985 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6985 Profile 2021-08-14 15:50:02 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 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https://db.gestaltmatcher.org/patients/4778 4778 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6987 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6987 Profile 2021-08-14 15:53:23 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4778 4778 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6988 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6988 Profile 2021-08-14 15:53:36 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4778 4778 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6988 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6988 Profile 2021-08-14 15:53:36 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6989 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6989 Frontal face 2022-02-25 23:29:39 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6989 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6989 Frontal face 2022-02-25 23:29:39 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6990 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6990 Frontal face 2022-02-25 23:29:42 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6990 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6990 Frontal face 2022-02-25 23:29:42 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6991 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6991 Profile 2021-08-14 15:54:40 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6991 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6991 Profile 2021-08-14 15:54:40 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6992 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6992 Frontal face 2022-02-25 23:29:43 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6992 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6992 Frontal face 2022-02-25 23:29:43 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6993 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6993 Frontal face 2022-02-25 23:29:45 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4779 4779 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6993 female CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6993 Frontal face 2022-02-25 23:29:45 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4780 4780 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6994 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6994 Frontal face 2022-02-25 23:29:47 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4780 4780 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6994 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6994 Frontal face 2022-02-25 23:29:47 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4780 4780 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6995 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6995 Profile 2021-08-14 15:55:53 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4780 4780 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6995 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6995 Profile 2021-08-14 15:55:53 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4780 4780 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6996 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6996 Profile 2021-08-14 15:56:04 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4780 4780 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6996 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6996 Profile 2021-08-14 15:56:04 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4780 4780 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6997 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6997 Frontal face 2022-02-25 23:29:49 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4780 4780 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6997 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6997 Frontal face 2022-02-25 23:29:49 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4781 4781 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6998 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6998 Frontal face 2022-02-25 23:29:50 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4781 4781 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6998 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6998 Frontal face 2022-02-25 23:29:50 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4781 4781 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6999 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6999 Frontal face 2022-02-25 23:29:53 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4781 4781 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_6999 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 6999 Frontal face 2022-02-25 23:29:53 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4781 4781 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_7000 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 7000 Profile 2021-08-14 15:57:09 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/4781 4781 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_7000 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 7000 Profile 2021-08-14 15:57:09 UTC 31729160 http://rdf.ncbi.nlm.nih.gov/pubmed/31729160 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/4815 4815 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7042 male KMT2A http://identifiers.org/ncbigene/4297 Asian - South/Indian "" 7042 Frontal face 2022-02-25 23:30:57 UTC 32128942 http://rdf.ncbi.nlm.nih.gov/pubmed/32128942 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/4815 4815 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7043 male KMT2A http://identifiers.org/ncbigene/4297 Asian - South/Indian "" 7043 Profile 2021-08-14 17:46:49 UTC 32128942 http://rdf.ncbi.nlm.nih.gov/pubmed/32128942 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/4815 4815 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7044 male KMT2A http://identifiers.org/ncbigene/4297 Asian - South/Indian "" 7044 Profile 2021-08-14 17:47:00 UTC 32128942 http://rdf.ncbi.nlm.nih.gov/pubmed/32128942 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/4817 4817 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_7050 female MAGEL2 http://identifiers.org/ncbigene/54551 Asian "" 7050 Frontal face 2022-02-25 23:31:08 UTC 32702813 http://rdf.ncbi.nlm.nih.gov/pubmed/32702813 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/4875 4875 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_7177 male ASXL3 http://identifiers.org/ncbigene/80816 Asian - East "" 7177 Frontal face 2022-02-25 23:33:43 UTC 33392332 http://rdf.ncbi.nlm.nih.gov/pubmed/33392332 3 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/4875 4875 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_7178 male ASXL3 http://identifiers.org/ncbigene/80816 Asian - East "" 7178 Frontal face 2022-02-25 23:33:44 UTC 33392332 http://rdf.ncbi.nlm.nih.gov/pubmed/33392332 3 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/4875 4875 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_7179 male ASXL3 http://identifiers.org/ncbigene/80816 Asian - East "" 7179 Profile 2021-08-15 19:21:12 UTC 33392332 http://rdf.ncbi.nlm.nih.gov/pubmed/33392332 3 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/4875 4875 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_7180 male ASXL3 http://identifiers.org/ncbigene/80816 Asian - East "" 7180 Others 2021-08-15 19:21:22 UTC 33392332 http://rdf.ncbi.nlm.nih.gov/pubmed/33392332 3 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/4880 4880 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7190 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian, European "" 7190 Frontal face 2022-02-25 23:33:54 UTC 31710778 http://rdf.ncbi.nlm.nih.gov/pubmed/31710778 11 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/4880 4880 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7191 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian, European "" 7191 Profile 2021-08-15 19:36:26 UTC 31710778 http://rdf.ncbi.nlm.nih.gov/pubmed/31710778 11 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/4881 4881 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7192 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian, European "" 7192 Frontal face 2022-02-25 23:33:55 UTC 31710778 http://rdf.ncbi.nlm.nih.gov/pubmed/31710778 17 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/4881 4881 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7193 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian, European "" 7193 Others 2021-08-15 19:36:59 UTC 31710778 http://rdf.ncbi.nlm.nih.gov/pubmed/31710778 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4907 4907 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_7237 female NBN http://identifiers.org/ncbigene/4683 African - North "" 7237 Frontal face 2022-02-25 23:35:04 UTC 32537088 http://rdf.ncbi.nlm.nih.gov/pubmed/32537088 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4907 4907 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_7237 female NBN http://identifiers.org/ncbigene/4683 African - North "" 7237 Frontal face 2022-02-25 23:35:04 UTC 32537088 http://rdf.ncbi.nlm.nih.gov/pubmed/32537088 0 0 "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4907 4907 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_7238 female NBN http://identifiers.org/ncbigene/4683 African - North "" 7238 Profile 2021-08-16 17:29:18 UTC 32537088 http://rdf.ncbi.nlm.nih.gov/pubmed/32537088 0 0 "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/4907 4907 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_7238 female NBN http://identifiers.org/ncbigene/4683 African - North "" 7238 Profile 2021-08-16 17:29:18 UTC 32537088 http://rdf.ncbi.nlm.nih.gov/pubmed/32537088 0 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4999 4999 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_7376 female AHDC1 http://identifiers.org/ncbigene/27245 Caucasian "" 7376 Frontal face 2022-02-25 23:38:33 UTC 31182893 http://rdf.ncbi.nlm.nih.gov/pubmed/31182893 0 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/4999 4999 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_7377 female AHDC1 http://identifiers.org/ncbigene/27245 Caucasian "" 7377 Profile 2021-08-21 17:19:31 UTC 31182893 http://rdf.ncbi.nlm.nih.gov/pubmed/31182893 0 0 "" NANDO:2200739 MONDO:0013245 OMIM:613385 https://db.gestaltmatcher.org/patients/5007 5007 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM https://db.gestaltmatcher.org/patients/image_7396 female ITCH http://identifiers.org/ncbigene/83737 Caucasian "" 7396 Frontal face 2022-02-25 23:38:59 UTC 31091003 http://rdf.ncbi.nlm.nih.gov/pubmed/31091003 23 0 "" NANDO:2200739 MONDO:0013245 OMIM:613385 https://db.gestaltmatcher.org/patients/5007 5007 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM https://db.gestaltmatcher.org/patients/image_7397 female ITCH http://identifiers.org/ncbigene/83737 Caucasian "" 7397 Profile 2021-08-21 17:42:34 UTC 31091003 http://rdf.ncbi.nlm.nih.gov/pubmed/31091003 23 0 "" NANDO:2200739 MONDO:0013245 OMIM:613385 https://db.gestaltmatcher.org/patients/5007 5007 AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM https://db.gestaltmatcher.org/patients/image_7398 female ITCH http://identifiers.org/ncbigene/83737 Caucasian "" 7398 Limbs 2021-08-21 17:42:45 UTC 31091003 http://rdf.ncbi.nlm.nih.gov/pubmed/31091003 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5053 5053 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7484 female KMT2A http://identifiers.org/ncbigene/4297 American - Latin/Hispanic "" 7484 Frontal face 2022-02-25 23:40:53 UTC 31168168 http://rdf.ncbi.nlm.nih.gov/pubmed/31168168 1 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5076 5076 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_7520 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 7520 Frontal face 2022-02-26 00:00:53 UTC 31274575 http://rdf.ncbi.nlm.nih.gov/pubmed/31274575 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5076 5076 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_7521 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 7521 Profile 2021-08-29 17:56:47 UTC 31274575 http://rdf.ncbi.nlm.nih.gov/pubmed/31274575 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5077 5077 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_7522 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 7522 Frontal face 2022-02-26 00:00:56 UTC 31274575 http://rdf.ncbi.nlm.nih.gov/pubmed/31274575 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5079 5079 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_7526 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 7526 Frontal face 2022-02-26 00:00:57 UTC 31274575 http://rdf.ncbi.nlm.nih.gov/pubmed/31274575 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5078 5078 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_7527 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 7527 Frontal face 2022-02-26 00:01:00 UTC 31274575 http://rdf.ncbi.nlm.nih.gov/pubmed/31274575 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5077 5077 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_7528 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 7528 Frontal face 2022-02-26 00:01:01 UTC 31274575 http://rdf.ncbi.nlm.nih.gov/pubmed/31274575 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5080 5080 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_7529 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 7529 Frontal face 2022-02-26 00:01:04 UTC 31274575 http://rdf.ncbi.nlm.nih.gov/pubmed/31274575 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5124 5124 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_7664 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 7664 Frontal face 2022-02-26 00:04:02 UTC 30719864 http://rdf.ncbi.nlm.nih.gov/pubmed/30719864 0 4 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5124 5124 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_7664 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 7664 Frontal face 2022-02-26 00:04:02 UTC 30719864 http://rdf.ncbi.nlm.nih.gov/pubmed/30719864 0 4 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5124 5124 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_7665 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 7665 Profile 2021-09-01 19:36:33 UTC 30719864 http://rdf.ncbi.nlm.nih.gov/pubmed/30719864 0 4 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5124 5124 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_7665 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 7665 Profile 2021-09-01 19:36:33 UTC 30719864 http://rdf.ncbi.nlm.nih.gov/pubmed/30719864 0 4 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5124 5124 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_7666 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 7666 Frontal face 2022-02-26 00:04:04 UTC 30719864 http://rdf.ncbi.nlm.nih.gov/pubmed/30719864 1 6 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5124 5124 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_7666 female NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 7666 Frontal face 2022-02-26 00:04:04 UTC 30719864 http://rdf.ncbi.nlm.nih.gov/pubmed/30719864 1 6 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5125 5125 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_7667 male NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 7667 Frontal face 2022-02-26 00:04:06 UTC 30719864 http://rdf.ncbi.nlm.nih.gov/pubmed/30719864 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5125 5125 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_7667 male NSD1 http://identifiers.org/ncbigene/64324 Caucasian "" 7667 Frontal face 2022-02-26 00:04:06 UTC 30719864 http://rdf.ncbi.nlm.nih.gov/pubmed/30719864 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/5161 5161 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_7734 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 7734 Frontal face 2022-02-26 00:05:27 UTC 29226580 http://rdf.ncbi.nlm.nih.gov/pubmed/29226580 8 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/5161 5161 OHDO SYNDROME, SBBYS VARIANT 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21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 7 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5 5 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4 female "" "" "" Caucasian 4 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 12 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5 5 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_4 female "" "" "" Caucasian 4 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 12 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5 5 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5 female "" "" "" Caucasian 5 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 83 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5 5 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_5 female "" "" "" Caucasian 5 Frontal face 2022-04-18 21:44:33 UTC 20089974 http://rdf.ncbi.nlm.nih.gov/pubmed/20089974 83 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/49 49 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_61 male "" "" "" Singaporean 61 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/49 49 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_61 male "" "" "" Singaporean 61 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/49 49 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_62 male "" "" "" Singaporean 62 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/49 49 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_62 male "" "" "" Singaporean 62 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 10 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/50 50 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_63 male "" "" "" Singaporean 63 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 19 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/50 50 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_63 male "" "" "" Singaporean 63 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 19 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/50 50 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_64 male "" "" "" Singaporean 64 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 19 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/50 50 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_64 male "" "" "" Singaporean 64 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 19 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/51 51 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_65 female "" "" "" Sri Lankan 65 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 9 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/51 51 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_65 female "" "" "" Sri Lankan 65 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 9 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/51 51 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_66 female "" "" "" Sri Lankan 66 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 9 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/51 51 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_66 female "" "" "" Sri Lankan 66 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 9 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/52 52 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_67 female "" "" "" Sri Lankan 67 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 6 9 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/52 52 WILLIAMS-BEUREN 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http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 10 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4901 4901 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7224 male "" "" Asian - South/Indian "" 7224 Frontal face 2022-02-25 23:34:43 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 10 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4901 4901 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7225 male "" "" Asian - South/Indian "" 7225 Frontal face 2022-02-25 23:34:46 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 2 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4901 4901 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7225 male "" "" Asian - South/Indian "" 7225 Frontal face 2022-02-25 23:34:46 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 2 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4901 4901 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7226 male "" "" Asian - South/Indian "" 7226 Frontal face 2022-02-25 23:34:47 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 3 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4901 4901 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7226 male "" "" Asian - South/Indian "" 7226 Frontal face 2022-02-25 23:34:47 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 3 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4901 4901 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7227 male "" "" Asian - South/Indian "" 7227 Frontal face 2022-02-25 23:34:50 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 5 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4901 4901 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7227 male "" "" Asian - South/Indian "" 7227 Frontal face 2022-02-25 23:34:50 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 5 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4902 4902 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7228 male "" "" Asian - South/Indian "" 7228 Frontal face 2022-02-25 23:34:51 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 0 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4902 4902 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7228 male "" "" Asian - South/Indian "" 7228 Frontal face 2022-02-25 23:34:51 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 0 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4903 4903 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7229 female "" "" Asian - South/Indian "" 7229 Frontal face 2022-02-25 23:34:53 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 3 8 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4903 4903 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7229 female "" "" Asian - South/Indian "" 7229 Frontal face 2022-02-25 23:34:53 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 3 8 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4903 4903 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7230 female "" "" Asian - South/Indian "" 7230 Frontal face 2022-02-25 23:34:54 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 11 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4903 4903 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7230 female "" "" Asian - South/Indian "" 7230 Frontal face 2022-02-25 23:34:54 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 11 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4903 4903 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7231 female "" "" Asian - South/Indian "" 7231 Frontal face 2022-02-25 23:34:57 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 2 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4903 4903 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7231 female "" "" Asian - South/Indian "" 7231 Frontal face 2022-02-25 23:34:57 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 2 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4904 4904 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7232 female "" "" Asian - South/Indian "" 7232 Frontal face 2022-02-25 23:34:58 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 0 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/4904 4904 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_7232 female "" "" Asian - South/Indian "" 7232 Frontal face 2022-02-25 23:34:58 UTC 32914558 http://rdf.ncbi.nlm.nih.gov/pubmed/32914558 0 0 "" NANDO:2201010 MONDO:0007793 OMIM:146000 https://db.gestaltmatcher.org/patients/5094 5094 HYPOCHONDROPLASIA https://db.gestaltmatcher.org/patients/image_7559 unknown "" "" Unknown "" 7559 Hand X-ray 2021-08-31 15:24:57 UTC 16912704 http://rdf.ncbi.nlm.nih.gov/pubmed/16912704 30 0 "" NANDO:2201010 MONDO:0007793 OMIM:146000 https://db.gestaltmatcher.org/patients/5095 5095 HYPOCHONDROPLASIA https://db.gestaltmatcher.org/patients/image_7560 unknown "" "" Unknown "" 7560 Hand X-ray 2021-08-31 15:33:19 UTC 16912704 http://rdf.ncbi.nlm.nih.gov/pubmed/16912704 0 6 "" NANDO:2201010 MONDO:0007793 OMIM:146000 https://db.gestaltmatcher.org/patients/5096 5096 HYPOCHONDROPLASIA https://db.gestaltmatcher.org/patients/image_7561 unknown "" "" Unknown "" 7561 Hand X-ray 2021-08-31 15:36:30 UTC 16912704 http://rdf.ncbi.nlm.nih.gov/pubmed/16912704 8 0 "" NANDO:2201010 MONDO:0007793 OMIM:146000 https://db.gestaltmatcher.org/patients/5097 5097 HYPOCHONDROPLASIA https://db.gestaltmatcher.org/patients/image_7562 female "" "" Unknown "" 7562 Frontal face 2022-02-26 00:01:35 UTC 16912704 http://rdf.ncbi.nlm.nih.gov/pubmed/16912704 3 6 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5098 5098 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_7563 unknown "" "" Unknown "" 7563 Hand X-ray 2021-08-31 15:43:32 UTC 16912704 http://rdf.ncbi.nlm.nih.gov/pubmed/16912704 5 9 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5098 5098 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_7563 unknown "" "" Unknown "" 7563 Hand X-ray 2021-08-31 15:43:32 UTC 16912704 http://rdf.ncbi.nlm.nih.gov/pubmed/16912704 5 9 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5534 5534 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14799 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 14799 Profile 2023-06-12 12:55:55 UTC 28328121 http://rdf.ncbi.nlm.nih.gov/pubmed/28328121 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5534 5534 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_14799 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 14799 Profile 2023-06-12 12:55:55 UTC 28328121 http://rdf.ncbi.nlm.nih.gov/pubmed/28328121 0 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7890 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7890 Frontal face 2022-02-26 00:08:39 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 2 10 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7890 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7890 Frontal face 2022-02-26 00:08:39 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 2 10 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7891 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7891 Frontal face 2022-02-26 00:08:42 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 8 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7891 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7891 Frontal face 2022-02-26 00:08:42 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 8 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7892 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7892 Frontal face 2022-02-26 00:08:43 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 14 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7892 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7892 Frontal face 2022-02-26 00:08:43 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 14 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7893 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7893 Frontal face 2022-02-26 00:08:45 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 16 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7893 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7893 Frontal face 2022-02-26 00:08:45 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 16 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7894 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7894 Frontal face 2022-02-26 00:08:47 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 16 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7894 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7894 Frontal face 2022-02-26 00:08:47 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 16 0 "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7895 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7895 Profile 2021-09-17 19:10:01 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 16 0 "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/5272 5272 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_7895 female EED http://identifiers.org/ncbigene/8726 American - Latin/Hispanic "" 7895 Profile 2021-09-17 19:10:01 UTC 27868325 http://rdf.ncbi.nlm.nih.gov/pubmed/27868325 16 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5288 5288 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_7920 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 7920 Frontal face 2022-02-26 00:09:31 UTC 28155231 http://rdf.ncbi.nlm.nih.gov/pubmed/28155231 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5288 5288 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_7920 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 7920 Frontal face 2022-02-26 00:09:31 UTC 28155231 http://rdf.ncbi.nlm.nih.gov/pubmed/28155231 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5289 5289 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_7921 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 7921 Frontal face 2022-02-26 00:09:32 UTC 28155231 http://rdf.ncbi.nlm.nih.gov/pubmed/28155231 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5289 5289 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_7921 unknown CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 7921 Frontal face 2022-02-26 00:09:32 UTC 28155231 http://rdf.ncbi.nlm.nih.gov/pubmed/28155231 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5299 5299 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7943 female KMT2A http://identifiers.org/ncbigene/4297 Asian - East "" 7943 Frontal face 2022-02-26 00:10:02 UTC 27777327 http://rdf.ncbi.nlm.nih.gov/pubmed/27777327 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5300 5300 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7944 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 7944 Frontal face 2022-02-26 00:10:04 UTC 27777327 http://rdf.ncbi.nlm.nih.gov/pubmed/27777327 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5300 5300 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7945 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 7945 Profile 2021-09-19 11:46:58 UTC 27777327 http://rdf.ncbi.nlm.nih.gov/pubmed/27777327 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5333 5333 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_7996 male KMT2A http://identifiers.org/ncbigene/4297 Asian - East "" 7996 Frontal face 2022-02-26 00:11:16 UTC 28815892 http://rdf.ncbi.nlm.nih.gov/pubmed/28815892 12 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5336 5336 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8000 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8000 Frontal face 2022-02-26 00:11:21 UTC 29255178 http://rdf.ncbi.nlm.nih.gov/pubmed/29255178 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5336 5336 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8001 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8001 Profile 2021-09-23 15:38:01 UTC 29255178 http://rdf.ncbi.nlm.nih.gov/pubmed/29255178 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5337 5337 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8002 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8002 Frontal face 2022-02-26 00:11:23 UTC 29255178 http://rdf.ncbi.nlm.nih.gov/pubmed/29255178 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5337 5337 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8003 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8003 Profile 2021-09-23 15:38:34 UTC 29255178 http://rdf.ncbi.nlm.nih.gov/pubmed/29255178 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5337 5337 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8004 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8004 Frontal face 2022-02-26 00:11:24 UTC 29255178 http://rdf.ncbi.nlm.nih.gov/pubmed/29255178 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/5370 5370 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_8056 male ASXL3 http://identifiers.org/ncbigene/80816 Caucasian "" 8056 Frontal face 2022-02-26 00:12:43 UTC 28785287 http://rdf.ncbi.nlm.nih.gov/pubmed/28785287 0 0 "" NANDO:2201416 MONDO:0014205 OMIM:615485 https://db.gestaltmatcher.org/patients/5370 5370 BAINBRIDGE-ROPERS SYNDROME https://db.gestaltmatcher.org/patients/image_8057 male ASXL3 http://identifiers.org/ncbigene/80816 Caucasian "" 8057 Profile 2021-09-23 17:05:19 UTC 28785287 http://rdf.ncbi.nlm.nih.gov/pubmed/28785287 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/5394 5394 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_8092 male MECP2 http://identifiers.org/ncbigene/4204 Asian - East "" 8092 Frontal face 2022-02-26 00:13:34 UTC 29141583 http://rdf.ncbi.nlm.nih.gov/pubmed/29141583 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/5395 5395 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_8093 male MECP2 http://identifiers.org/ncbigene/4204 Asian - East "" 8093 Frontal face 2022-02-26 00:13:35 UTC 29141583 http://rdf.ncbi.nlm.nih.gov/pubmed/29141583 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/5396 5396 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_8094 male MECP2 http://identifiers.org/ncbigene/4204 Asian - East "" 8094 Frontal face 2022-02-26 00:13:38 UTC 29141583 http://rdf.ncbi.nlm.nih.gov/pubmed/29141583 0 0 "" NANDO:2200984 MONDO:0010283 OMIM:300260 https://db.gestaltmatcher.org/patients/5397 5397 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE https://db.gestaltmatcher.org/patients/image_8095 male MECP2 http://identifiers.org/ncbigene/4204 Asian - East "" 8095 Frontal face 2022-02-26 00:13:39 UTC 29141583 http://rdf.ncbi.nlm.nih.gov/pubmed/29141583 0 0 "" NANDO:2200412 MONDO:0018919 OMIM:174800 https://db.gestaltmatcher.org/patients/5446 5446 MCCUNE-ALBRIGHT SYNDROME https://db.gestaltmatcher.org/patients/image_8176 female GNAS http://identifiers.org/ncbigene/2778 Asian - East "" 8176 Frontal face 2022-02-26 00:15:34 UTC 28528327 http://rdf.ncbi.nlm.nih.gov/pubmed/28528327 0 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5467 5467 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_8222 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 8222 Frontal face 2022-02-26 00:16:37 UTC 28371085 http://rdf.ncbi.nlm.nih.gov/pubmed/28371085 4 0 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5467 5467 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_8223 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 8223 Profile 2021-10-03 13:59:29 UTC 28371085 http://rdf.ncbi.nlm.nih.gov/pubmed/28371085 1 6 "" NANDO:2201395 MONDO:0010497 OMIM:300958 https://db.gestaltmatcher.org/patients/5468 5468 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, SNIJDERS BLOK TYPE https://db.gestaltmatcher.org/patients/image_8224 female DDX3X http://identifiers.org/ncbigene/1654 Caucasian "" 8224 Frontal face 2022-02-26 00:16:38 UTC 28371085 http://rdf.ncbi.nlm.nih.gov/pubmed/28371085 4 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5477 5477 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8239 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8239 Frontal face 2022-02-26 00:17:07 UTC 28120103 http://rdf.ncbi.nlm.nih.gov/pubmed/28120103 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5477 5477 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8240 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8240 Frontal face 2022-02-26 00:17:08 UTC 28120103 http://rdf.ncbi.nlm.nih.gov/pubmed/28120103 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5477 5477 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8241 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8241 Frontal face 2022-02-26 00:17:11 UTC 28120103 http://rdf.ncbi.nlm.nih.gov/pubmed/28120103 0 0 "" NANDO:1201117 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5482 5482 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8246 female KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 8246 Frontal face 2022-02-26 00:17:20 UTC 28024840 http://rdf.ncbi.nlm.nih.gov/pubmed/28024840 0 0 "" NANDO:2201516 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5482 5482 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8246 female KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 8246 Frontal face 2022-02-26 00:17:20 UTC 28024840 http://rdf.ncbi.nlm.nih.gov/pubmed/28024840 0 0 "" NANDO:1201117 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5483 5483 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8247 male KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 8247 Frontal face 2022-02-26 00:17:23 UTC 28024840 http://rdf.ncbi.nlm.nih.gov/pubmed/28024840 0 0 "" NANDO:2201516 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5483 5483 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8247 male KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 8247 Frontal face 2022-02-26 00:17:23 UTC 28024840 http://rdf.ncbi.nlm.nih.gov/pubmed/28024840 0 0 "" NANDO:1201117 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5484 5484 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8248 male KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 8248 Frontal face 2022-02-26 00:17:24 UTC 28024840 http://rdf.ncbi.nlm.nih.gov/pubmed/28024840 0 0 "" NANDO:2201516 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5484 5484 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8248 male KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 8248 Frontal face 2022-02-26 00:17:24 UTC 28024840 http://rdf.ncbi.nlm.nih.gov/pubmed/28024840 0 0 "" NANDO:1201117 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5485 5485 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8249 male KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 8249 Frontal face 2022-02-26 00:17:27 UTC 28024840 http://rdf.ncbi.nlm.nih.gov/pubmed/28024840 0 0 "" NANDO:2201516 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5485 5485 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8249 male KCNJ2 http://identifiers.org/ncbigene/3759 Caucasian "" 8249 Frontal face 2022-02-26 00:17:27 UTC 28024840 http://rdf.ncbi.nlm.nih.gov/pubmed/28024840 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5497 5497 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8262 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8262 Frontal face 2022-02-26 00:17:49 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 4 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5497 5497 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8262 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8262 Frontal face 2022-02-26 00:17:49 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 4 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5497 5497 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8263 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8263 Profile 2021-10-06 18:01:46 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 4 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5497 5497 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8263 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8263 Profile 2021-10-06 18:01:46 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 4 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5498 5498 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8264 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8264 Frontal face 2022-02-26 00:17:50 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 16 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5498 5498 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8264 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8264 Frontal face 2022-02-26 00:17:50 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 16 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5498 5498 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8265 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8265 Profile 2021-10-06 18:02:38 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 16 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5498 5498 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8265 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8265 Profile 2021-10-06 18:02:38 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 16 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5499 5499 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8266 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8266 Frontal face 2022-02-26 00:17:52 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 3 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5499 5499 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8266 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8266 Frontal face 2022-02-26 00:17:52 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 3 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5499 5499 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8267 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8267 Frontal face 2022-02-26 00:17:54 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 3 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5499 5499 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8267 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8267 Frontal face 2022-02-26 00:17:54 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 3 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5499 5499 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8268 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8268 Profile 2021-10-06 18:03:54 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 3 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5499 5499 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8268 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8268 Profile 2021-10-06 18:03:54 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 3 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5500 5500 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8269 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8269 Frontal face 2022-02-26 00:17:56 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 8 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5500 5500 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8269 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8269 Frontal face 2022-02-26 00:17:56 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 8 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5500 5500 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8270 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8270 Profile 2021-10-06 18:05:41 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 8 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5500 5500 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8270 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8270 Profile 2021-10-06 18:05:41 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 8 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5501 5501 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8271 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8271 Frontal face 2022-02-26 00:17:58 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 3 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5501 5501 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8271 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8271 Frontal face 2022-02-26 00:17:58 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 3 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5501 5501 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8272 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8272 Profile 2021-10-06 18:07:39 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 3 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5501 5501 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8272 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8272 Profile 2021-10-06 18:07:39 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 3 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5501 5501 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8273 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8273 Frontal face 2022-02-26 00:18:00 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 7 6 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5501 5501 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8273 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8273 Frontal face 2022-02-26 00:18:00 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 7 6 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5501 5501 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8274 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8274 Profile 2021-10-06 18:08:10 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 7 6 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5501 5501 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8274 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8274 Profile 2021-10-06 18:08:10 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 7 6 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5502 5502 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8275 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8275 Frontal face 2022-02-26 00:18:02 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 5 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5502 5502 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8275 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8275 Frontal face 2022-02-26 00:18:02 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 5 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5502 5502 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8276 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8276 Profile 2021-10-06 18:09:06 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 5 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5502 5502 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8276 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8276 Profile 2021-10-06 18:09:06 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 5 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5502 5502 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8277 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8277 Frontal face 2022-02-26 00:18:04 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 5 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5502 5502 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8277 male HRAS http://identifiers.org/ncbigene/3265 Caucasian, European, European - Eastern "" 8277 Frontal face 2022-02-26 00:18:04 UTC 28027064 http://rdf.ncbi.nlm.nih.gov/pubmed/28027064 0 5 "" NANDO:2200188 MONDO:0010645 OMIM:309000 https://db.gestaltmatcher.org/patients/5532 5532 LOWE OCULOCEREBRORENAL SYNDROME https://db.gestaltmatcher.org/patients/image_8339 male OCRL http://identifiers.org/ncbigene/4952 African - North "" 8339 Frontal face 2022-12-09 16:48:19 UTC 29226564 http://rdf.ncbi.nlm.nih.gov/pubmed/29226564 23 0 "" NANDO:1201116 MONDO:0010645 OMIM:309000 https://db.gestaltmatcher.org/patients/5532 5532 LOWE OCULOCEREBRORENAL SYNDROME https://db.gestaltmatcher.org/patients/image_8339 male OCRL http://identifiers.org/ncbigene/4952 African - North "" 8339 Frontal face 2022-12-09 16:48:19 UTC 29226564 http://rdf.ncbi.nlm.nih.gov/pubmed/29226564 23 0 "" NANDO:2200188 MONDO:0010645 OMIM:309000 https://db.gestaltmatcher.org/patients/5532 5532 LOWE OCULOCEREBRORENAL SYNDROME https://db.gestaltmatcher.org/patients/image_8341 male OCRL http://identifiers.org/ncbigene/4952 African - North "" 8341 Frontal face 2022-12-09 16:48:41 UTC 29226564 http://rdf.ncbi.nlm.nih.gov/pubmed/29226564 23 0 "" NANDO:1201116 MONDO:0010645 OMIM:309000 https://db.gestaltmatcher.org/patients/5532 5532 LOWE OCULOCEREBRORENAL SYNDROME https://db.gestaltmatcher.org/patients/image_8341 male OCRL http://identifiers.org/ncbigene/4952 African - North "" 8341 Frontal face 2022-12-09 16:48:41 UTC 29226564 http://rdf.ncbi.nlm.nih.gov/pubmed/29226564 23 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5533 5533 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8343 female ZEB2 http://identifiers.org/ncbigene/9839 African - North "" 8343 Frontal face 2022-12-08 22:58:26 UTC 24282181 http://rdf.ncbi.nlm.nih.gov/pubmed/24282181 5 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5533 5533 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8343 female ZEB2 http://identifiers.org/ncbigene/9839 African - North "" 8343 Frontal face 2022-12-08 22:58:26 UTC 24282181 http://rdf.ncbi.nlm.nih.gov/pubmed/24282181 5 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5534 5534 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_8344 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 8344 Frontal face 2023-04-16 18:55:13 UTC 28328121 http://rdf.ncbi.nlm.nih.gov/pubmed/28328121 3 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5534 5534 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_8344 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 8344 Frontal face 2023-04-16 18:55:13 UTC 28328121 http://rdf.ncbi.nlm.nih.gov/pubmed/28328121 3 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5534 5534 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_8345 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 8345 Frontal face 2023-04-16 18:55:23 UTC 28328121 http://rdf.ncbi.nlm.nih.gov/pubmed/28328121 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/5534 5534 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_8345 male NSD1 http://identifiers.org/ncbigene/64324 African - North "" 8345 Frontal face 2023-04-16 18:55:23 UTC 28328121 http://rdf.ncbi.nlm.nih.gov/pubmed/28328121 0 0 "" NANDO:2200412 MONDO:0018919 OMIM:174800 https://db.gestaltmatcher.org/patients/5544 5544 MCCUNE-ALBRIGHT SYNDROME https://db.gestaltmatcher.org/patients/image_8354 male GNAS http://identifiers.org/ncbigene/2778 Unknown "" 8354 Frontal face 2022-02-26 00:19:40 UTC 27493082 http://rdf.ncbi.nlm.nih.gov/pubmed/27493082 0 0 "" NANDO:2200412 MONDO:0018919 OMIM:174800 https://db.gestaltmatcher.org/patients/5544 5544 MCCUNE-ALBRIGHT SYNDROME https://db.gestaltmatcher.org/patients/image_8355 male GNAS http://identifiers.org/ncbigene/2778 Unknown "" 8355 Frontal face 2022-02-26 00:19:41 UTC 27493082 http://rdf.ncbi.nlm.nih.gov/pubmed/27493082 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8471 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8471 Frontal face 2022-02-26 00:22:18 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 9 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8471 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8471 Frontal face 2022-02-26 00:22:18 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 9 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8472 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8472 Frontal face 2022-02-26 00:22:21 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 7 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8472 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8472 Frontal face 2022-02-26 00:22:21 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 7 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8473 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8473 Frontal face 2022-02-26 00:22:22 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8473 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8473 Frontal face 2022-02-26 00:22:22 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8474 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8474 Frontal face 2022-02-26 00:22:24 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 1 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8474 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8474 Frontal face 2022-02-26 00:22:24 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 1 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8475 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8475 Frontal face 2022-02-26 00:22:25 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 2 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8475 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8475 Frontal face 2022-02-26 00:22:25 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 2 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8476 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8476 Frontal face 2022-02-26 00:22:28 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 3 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8476 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8476 Frontal face 2022-02-26 00:22:28 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 3 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8477 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8477 Frontal face 2022-02-26 00:22:29 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 5 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8477 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8477 Frontal face 2022-02-26 00:22:29 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 5 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8478 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8478 Frontal face 2022-02-26 00:22:32 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 6 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8478 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8478 Frontal face 2022-02-26 00:22:32 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 6 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8479 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8479 Frontal face 2022-02-26 00:22:33 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 9 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5626 5626 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8479 male HRAS http://identifiers.org/ncbigene/3265 Asian - East "" 8479 Frontal face 2022-02-26 00:22:33 UTC 27705751 http://rdf.ncbi.nlm.nih.gov/pubmed/27705751 0 9 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/5675 5675 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_8540 male TCF4 http://identifiers.org/ncbigene/6925 Asian - East "" 8540 Frontal face 2022-02-26 00:24:16 UTC 27864810 http://rdf.ncbi.nlm.nih.gov/pubmed/27864810 4 0 "" NANDO:1201117 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5678 5678 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8545 female KCNJ2 http://identifiers.org/ncbigene/3759 Asian - East "" 8545 Frontal face 2022-02-26 00:24:24 UTC 26927354 http://rdf.ncbi.nlm.nih.gov/pubmed/26927354 0 0 "" NANDO:2201516 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5678 5678 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8545 female KCNJ2 http://identifiers.org/ncbigene/3759 Asian - East "" 8545 Frontal face 2022-02-26 00:24:24 UTC 26927354 http://rdf.ncbi.nlm.nih.gov/pubmed/26927354 0 0 "" NANDO:1201117 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5679 5679 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8546 female KCNJ2 http://identifiers.org/ncbigene/3759 Asian - East "" 8546 Frontal face 2022-02-26 00:24:24 UTC 26927354 http://rdf.ncbi.nlm.nih.gov/pubmed/26927354 0 0 "" NANDO:2201516 MONDO:0008222 OMIM:170390 https://db.gestaltmatcher.org/patients/5679 5679 ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS https://db.gestaltmatcher.org/patients/image_8546 female KCNJ2 http://identifiers.org/ncbigene/3759 Asian - East "" 8546 Frontal face 2022-02-26 00:24:24 UTC 26927354 http://rdf.ncbi.nlm.nih.gov/pubmed/26927354 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5698 5698 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8580 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8580 Frontal face 2022-02-26 00:25:17 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 4 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5698 5698 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8580 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8580 Frontal face 2022-02-26 00:25:17 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 4 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5699 5699 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8581 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8581 Frontal face 2022-02-26 00:25:18 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 7 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5699 5699 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8581 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8581 Frontal face 2022-02-26 00:25:18 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 7 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5700 5700 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8582 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8582 Frontal face 2022-02-26 00:25:20 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 1 6 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5700 5700 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8582 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8582 Frontal face 2022-02-26 00:25:20 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 1 6 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5700 5700 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8583 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8583 Frontal face 2022-02-26 00:25:22 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 1 6 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5700 5700 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8583 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8583 Frontal face 2022-02-26 00:25:22 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 1 6 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5701 5701 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8584 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8584 Frontal face 2022-02-26 00:25:24 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 9 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5701 5701 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8584 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8584 Frontal face 2022-02-26 00:25:24 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 9 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5702 5702 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8585 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8585 Frontal face 2022-02-26 00:25:25 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 3 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5702 5702 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8585 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8585 Frontal face 2022-02-26 00:25:25 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 3 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5703 5703 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8586 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8586 Frontal face 2022-02-26 00:25:28 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 12 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5703 5703 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8586 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 8586 Frontal face 2022-02-26 00:25:28 UTC 26809768 http://rdf.ncbi.nlm.nih.gov/pubmed/26809768 12 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/5729 5729 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_8632 male FBN1 http://identifiers.org/ncbigene/2200 Caucasian "" 8632 Frontal face 2022-02-26 00:26:32 UTC 27615407 http://rdf.ncbi.nlm.nih.gov/pubmed/27615407 14 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/5729 5729 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_8632 male FBN1 http://identifiers.org/ncbigene/2200 Caucasian "" 8632 Frontal face 2022-02-26 00:26:32 UTC 27615407 http://rdf.ncbi.nlm.nih.gov/pubmed/27615407 14 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/5729 5729 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_8632 male FBN1 http://identifiers.org/ncbigene/2200 Caucasian "" 8632 Frontal face 2022-02-26 00:26:32 UTC 27615407 http://rdf.ncbi.nlm.nih.gov/pubmed/27615407 14 0 "" NANDO:1200644 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/5729 5729 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_8633 male FBN1 http://identifiers.org/ncbigene/2200 Caucasian "" 8633 Others 2021-11-03 11:25:39 UTC 27615407 http://rdf.ncbi.nlm.nih.gov/pubmed/27615407 0 0 "" NANDO:2200968 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/5729 5729 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_8633 male FBN1 http://identifiers.org/ncbigene/2200 Caucasian "" 8633 Others 2021-11-03 11:25:39 UTC 27615407 http://rdf.ncbi.nlm.nih.gov/pubmed/27615407 0 0 "" NANDO:1201158 MONDO:0007947 OMIM:154700 https://db.gestaltmatcher.org/patients/5729 5729 MARFAN SYNDROME https://db.gestaltmatcher.org/patients/image_8633 male FBN1 http://identifiers.org/ncbigene/2200 Caucasian "" 8633 Others 2021-11-03 11:25:39 UTC 27615407 http://rdf.ncbi.nlm.nih.gov/pubmed/27615407 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5765 5765 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8693 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European "" 8693 Frontal face 2022-02-26 00:27:53 UTC 26888048 http://rdf.ncbi.nlm.nih.gov/pubmed/26888048 6 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/5765 5765 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_8693 female HRAS http://identifiers.org/ncbigene/3265 Caucasian, European "" 8693 Frontal face 2022-02-26 00:27:53 UTC 26888048 http://rdf.ncbi.nlm.nih.gov/pubmed/26888048 6 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/5771 5771 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_8699 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 8699 Frontal face 2022-02-26 00:28:05 UTC 26936630 http://rdf.ncbi.nlm.nih.gov/pubmed/26936630 32 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/5771 5771 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_8699 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 8699 Frontal face 2022-02-26 00:28:05 UTC 26936630 http://rdf.ncbi.nlm.nih.gov/pubmed/26936630 32 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/5772 5772 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_8700 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 8700 Frontal face 2022-02-26 00:28:05 UTC 26936630 http://rdf.ncbi.nlm.nih.gov/pubmed/26936630 15 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/5772 5772 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_8700 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 8700 Frontal face 2022-02-26 00:28:05 UTC 26936630 http://rdf.ncbi.nlm.nih.gov/pubmed/26936630 15 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/5773 5773 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_8701 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 8701 Frontal face 2022-02-26 00:28:08 UTC 26936630 http://rdf.ncbi.nlm.nih.gov/pubmed/26936630 17 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/5773 5773 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_8701 female MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 8701 Frontal face 2022-02-26 00:28:08 UTC 26936630 http://rdf.ncbi.nlm.nih.gov/pubmed/26936630 17 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/5774 5774 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_8702 male MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 8702 Frontal face 2022-02-26 00:28:08 UTC 26936630 http://rdf.ncbi.nlm.nih.gov/pubmed/26936630 15 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/5774 5774 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_8702 male MECP2 http://identifiers.org/ncbigene/4204 Caucasian "" 8702 Frontal face 2022-02-26 00:28:08 UTC 26936630 http://rdf.ncbi.nlm.nih.gov/pubmed/26936630 15 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5776 5776 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8704 female KMT2A http://identifiers.org/ncbigene/4297 Asian - East "" 8704 Frontal face 2022-02-26 00:28:12 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5776 5776 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8705 female KMT2A http://identifiers.org/ncbigene/4297 Asian - East "" 8705 Profile 2021-11-06 12:12:08 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5777 5777 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8706 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8706 Frontal face 2022-02-26 00:28:16 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 3 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5777 5777 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8707 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8707 Profile 2021-11-06 12:13:29 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 3 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5777 5777 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8708 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8708 Frontal face 2022-02-26 00:28:16 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 4 5 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5777 5777 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8709 male KMT2A http://identifiers.org/ncbigene/4297 Caucasian "" 8709 Profile 2021-11-06 12:14:00 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 4 5 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5778 5778 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8710 female KMT2A http://identifiers.org/ncbigene/4297 Asian - East "" 8710 Frontal face 2022-02-26 00:28:19 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 2 7 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5778 5778 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8711 female KMT2A http://identifiers.org/ncbigene/4297 Asian - East "" 8711 Profile 2021-11-06 12:15:25 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 2 7 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5778 5778 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8712 female KMT2A http://identifiers.org/ncbigene/4297 Asian - East "" 8712 Frontal face 2022-02-26 00:28:20 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 2 11 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5779 5779 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8713 male KMT2A http://identifiers.org/ncbigene/4297 Asian - East "" 8713 Frontal face 2022-02-26 00:28:23 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 9 6 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5779 5779 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_8714 male KMT2A http://identifiers.org/ncbigene/4297 Asian - East "" 8714 Profile 2021-11-06 12:16:58 UTC 25810209 http://rdf.ncbi.nlm.nih.gov/pubmed/25810209 9 6 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5784 5784 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8719 female ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8719 Frontal face 2022-02-26 00:28:30 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 13 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5784 5784 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8719 female ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8719 Frontal face 2022-02-26 00:28:30 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 13 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5784 5784 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8720 female ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8720 Frontal face 2022-02-26 00:28:34 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 13 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5784 5784 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8720 female ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8720 Frontal face 2022-02-26 00:28:34 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 13 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5784 5784 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8721 female ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8721 Frontal face 2022-02-26 00:28:34 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 19 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5784 5784 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8721 female ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8721 Frontal face 2022-02-26 00:28:34 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 19 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5785 5785 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8722 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8722 Frontal face 2022-02-26 00:28:38 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 11 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5785 5785 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8722 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8722 Frontal face 2022-02-26 00:28:38 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 11 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5785 5785 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8723 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8723 Profile 2021-11-07 12:44:08 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 11 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5785 5785 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8723 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8723 Profile 2021-11-07 12:44:08 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 11 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5785 5785 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8724 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8724 Frontal face 2022-02-26 00:28:38 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 10 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5785 5785 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8724 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8724 Frontal face 2022-02-26 00:28:38 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 10 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5786 5786 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8725 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8725 Frontal face 2022-02-26 00:28:41 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 3 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5786 5786 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8725 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8725 Frontal face 2022-02-26 00:28:41 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 3 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5538 5538 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_8350 female CHD7 http://identifiers.org/ncbigene/55636 African - North "" 8350 Frontal face 2022-12-08 22:54:34 UTC "" "" 4 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5538 5538 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_8350 female CHD7 http://identifiers.org/ncbigene/55636 African - North "" 8350 Frontal face 2022-12-08 22:54:34 UTC "" "" 4 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5538 5538 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_8351 female CHD7 http://identifiers.org/ncbigene/55636 African - North "" 8351 Frontal face 2022-12-09 11:06:38 UTC "" "" 4 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5538 5538 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_8351 female CHD7 http://identifiers.org/ncbigene/55636 African - North "" 8351 Frontal face 2022-12-09 11:06:38 UTC "" "" 4 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5538 5538 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_8352 female CHD7 http://identifiers.org/ncbigene/55636 African - North "" 8352 Profile 2022-12-09 11:07:08 UTC "" "" 4 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/5538 5538 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_8352 female CHD7 http://identifiers.org/ncbigene/55636 African - North "" 8352 Profile 2022-12-09 11:07:08 UTC "" "" 4 0 "" NANDO:1200104 MONDO:0009658 OMIM:252940 https://db.gestaltmatcher.org/patients/5775 5775 MUCOPOLYSACCHARIDOSIS, TYPE IIID https://db.gestaltmatcher.org/patients/image_8703 male GNS http://identifiers.org/ncbigene/2799 "" "" 8703 Frontal face 2022-02-26 00:28:12 UTC 27512882 http://rdf.ncbi.nlm.nih.gov/pubmed/27512882 15 0 "" NANDO:2201177 MONDO:0009658 OMIM:252940 https://db.gestaltmatcher.org/patients/5775 5775 MUCOPOLYSACCHARIDOSIS, TYPE IIID https://db.gestaltmatcher.org/patients/image_8703 male GNS http://identifiers.org/ncbigene/2799 "" "" 8703 Frontal face 2022-02-26 00:28:12 UTC 27512882 http://rdf.ncbi.nlm.nih.gov/pubmed/27512882 15 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/55 55 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_71 female "" "" Asian - South-East Thai 71 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/55 55 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_71 female "" "" Asian - South-East Thai 71 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/53 53 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_69 male "" "" "" Taiwanese 69 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 1 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/53 53 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_69 male "" "" "" Taiwanese 69 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 1 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/54 54 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_70 female "" "" "" Thai 70 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/54 54 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_70 female "" "" "" Thai 70 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/56 56 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_72 female "" "" "" Latin American 72 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/56 56 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_72 female "" "" "" Latin American 72 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/56 56 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_73 female "" "" "" Latin American 73 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/56 56 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_73 female "" "" "" Latin American 73 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/57 57 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_74 male "" "" "" Thai 74 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 14 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/57 57 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_74 male "" "" "" Thai 74 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 14 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5350 5350 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8031 male "" "" Caucasian "" 8031 Frontal face 2022-02-26 00:11:58 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5350 5350 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8031 male "" "" Caucasian "" 8031 Frontal face 2022-02-26 00:11:58 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5351 5351 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8032 male "" "" American - Latin/Hispanic "" 8032 Frontal face 2022-02-26 00:12:00 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5351 5351 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8032 male "" "" American - Latin/Hispanic "" 8032 Frontal face 2022-02-26 00:12:00 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5352 5352 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8033 male "" "" American - Latin/Hispanic "" 8033 Frontal face 2022-02-26 00:12:02 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5352 5352 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8033 male "" "" American - Latin/Hispanic "" 8033 Frontal face 2022-02-26 00:12:02 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5353 5353 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8034 female "" "" American - Latin/Hispanic "" 8034 Frontal face 2022-02-26 00:12:04 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5353 5353 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8034 female "" "" American - Latin/Hispanic "" 8034 Frontal face 2022-02-26 00:12:04 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5354 5354 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8035 female "" "" American - Latin/Hispanic "" 8035 Frontal face 2022-02-26 00:12:06 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5354 5354 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8035 female "" "" American - Latin/Hispanic "" 8035 Frontal face 2022-02-26 00:12:06 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5355 5355 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8036 male "" "" American - Latin/Hispanic "" 8036 Frontal face 2022-02-26 00:12:08 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5355 5355 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8036 male "" "" American - Latin/Hispanic "" 8036 Frontal face 2022-02-26 00:12:08 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5356 5356 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8037 male "" "" Asian - South/Indian, Caucasian "" 8037 Frontal face 2022-02-26 00:12:09 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5356 5356 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8037 male "" "" Asian - South/Indian, Caucasian "" 8037 Frontal face 2022-02-26 00:12:09 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5357 5357 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8038 male "" "" Caucasian "" 8038 Frontal face 2022-02-26 00:12:12 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5357 5357 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8038 male "" "" Caucasian "" 8038 Frontal face 2022-02-26 00:12:12 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5358 5358 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8039 female "" "" Caucasian "" 8039 Frontal face 2022-02-26 00:12:13 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5358 5358 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8039 female "" "" Caucasian "" 8039 Frontal face 2022-02-26 00:12:13 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5358 5358 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8040 female "" "" Caucasian "" 8040 Profile 2021-09-23 16:38:20 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5358 5358 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8040 female "" "" Caucasian "" 8040 Profile 2021-09-23 16:38:20 UTC 28299356 http://rdf.ncbi.nlm.nih.gov/pubmed/28299356 0 0 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/5381 5381 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_8074 female "" "" Caucasian "" 8074 Frontal face 2022-02-26 00:13:04 UTC 28085742 http://rdf.ncbi.nlm.nih.gov/pubmed/28085742 0 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/5381 5381 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_8074 female "" "" Caucasian "" 8074 Frontal face 2022-02-26 00:13:04 UTC 28085742 http://rdf.ncbi.nlm.nih.gov/pubmed/28085742 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5400 5400 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8101 female "" "" Caucasian "" 8101 Frontal face 2022-02-26 00:13:47 UTC 28061881 http://rdf.ncbi.nlm.nih.gov/pubmed/28061881 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5400 5400 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8101 female "" "" Caucasian "" 8101 Frontal face 2022-02-26 00:13:47 UTC 28061881 http://rdf.ncbi.nlm.nih.gov/pubmed/28061881 0 0 "" NANDO:1200559 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5401 5401 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8102 female "" "" Caucasian "" 8102 Frontal face 2022-02-26 00:13:49 UTC 28061881 http://rdf.ncbi.nlm.nih.gov/pubmed/28061881 0 0 "" NANDO:2200980 MONDO:0008006 OMIM:157900 https://db.gestaltmatcher.org/patients/5401 5401 MOEBIUS SYNDROME; MBS https://db.gestaltmatcher.org/patients/image_8102 female "" "" Caucasian "" 8102 Frontal face 2022-02-26 00:13:49 UTC 28061881 http://rdf.ncbi.nlm.nih.gov/pubmed/28061881 0 0 "" NANDO:1200689 MONDO:0012176 OMIM:609029 https://db.gestaltmatcher.org/patients/5407 5407 EMANUEL SYNDROME https://db.gestaltmatcher.org/patients/image_8112 male "" "" Asian - East "" 8112 Frontal face 2022-02-26 00:14:04 UTC 28075445 http://rdf.ncbi.nlm.nih.gov/pubmed/28075445 2 0 "" NANDO:1200689 MONDO:0012176 OMIM:609029 https://db.gestaltmatcher.org/patients/5407 5407 EMANUEL SYNDROME https://db.gestaltmatcher.org/patients/image_8113 male "" "" Asian - East "" 8113 Profile 2021-09-26 19:54:56 UTC 28075445 http://rdf.ncbi.nlm.nih.gov/pubmed/28075445 0 0 "" NANDO:1200689 MONDO:0012176 OMIM:609029 https://db.gestaltmatcher.org/patients/5407 5407 EMANUEL SYNDROME https://db.gestaltmatcher.org/patients/image_8114 male "" "" Asian - East "" 8114 Profile 2021-09-26 19:55:06 UTC 28075445 http://rdf.ncbi.nlm.nih.gov/pubmed/28075445 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8231 male "" "" Caucasian "" 8231 Frontal face 2022-02-26 00:16:52 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 49 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8231 male "" "" Caucasian "" 8231 Frontal face 2022-02-26 00:16:52 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 49 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8232 male "" "" Caucasian "" 8232 Frontal face 2022-02-26 00:16:53 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8232 male "" "" Caucasian "" 8232 Frontal face 2022-02-26 00:16:53 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8233 male "" "" Caucasian "" 8233 Frontal face 2022-02-26 00:16:56 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8233 male "" "" Caucasian "" 8233 Frontal face 2022-02-26 00:16:56 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8234 male "" "" Caucasian "" 8234 Frontal face 2022-02-26 00:16:57 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8234 male "" "" Caucasian "" 8234 Frontal face 2022-02-26 00:16:57 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8235 male "" "" Caucasian "" 8235 Frontal face 2022-02-26 00:17:00 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/5473 5473 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8235 male "" "" Caucasian "" 8235 Frontal face 2022-02-26 00:17:00 UTC 28574231 http://rdf.ncbi.nlm.nih.gov/pubmed/28574231 0 0 "" NANDO:1200685 MONDO:0011975 OMIM:608149 https://db.gestaltmatcher.org/patients/5721 5721 KAGAMI-OGATA SYNDROME https://db.gestaltmatcher.org/patients/image_8618 female "" "" Asian - East "" 8618 Frontal face 2022-02-26 00:26:10 UTC 26377239 http://rdf.ncbi.nlm.nih.gov/pubmed/26377239 2 0 "" NANDO:1200685 MONDO:0011975 OMIM:608149 https://db.gestaltmatcher.org/patients/5721 5721 KAGAMI-OGATA SYNDROME https://db.gestaltmatcher.org/patients/image_8619 female "" "" Asian - East "" 8619 Frontal face 2022-02-26 00:26:13 UTC 26377239 http://rdf.ncbi.nlm.nih.gov/pubmed/26377239 8 0 "" NANDO:1200685 MONDO:0011975 OMIM:608149 https://db.gestaltmatcher.org/patients/5721 5721 KAGAMI-OGATA SYNDROME https://db.gestaltmatcher.org/patients/image_8620 female "" "" Asian - East "" 8620 Frontal face 2022-02-26 00:26:13 UTC 26377239 http://rdf.ncbi.nlm.nih.gov/pubmed/26377239 0 0 "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/5728 5728 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_8630 female "" "" Caucasian "" 8630 Frontal face 2022-02-26 00:26:28 UTC 28058401 http://rdf.ncbi.nlm.nih.gov/pubmed/28058401 19 0 "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/5728 5728 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_8630 female "" "" Caucasian "" 8630 Frontal face 2022-02-26 00:26:28 UTC 28058401 http://rdf.ncbi.nlm.nih.gov/pubmed/28058401 19 0 "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/5728 5728 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_8631 female "" "" Caucasian "" 8631 Limbs 2021-11-03 11:22:14 UTC 28058401 http://rdf.ncbi.nlm.nih.gov/pubmed/28058401 0 0 "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/5728 5728 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_8631 female "" "" Caucasian "" 8631 Limbs 2021-11-03 11:22:14 UTC 28058401 http://rdf.ncbi.nlm.nih.gov/pubmed/28058401 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9330 male "" "" European "" 9330 Frontal face 2022-02-26 00:41:52 UTC "" "" 25 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9330 male "" "" European "" 9330 Frontal face 2022-02-26 00:41:52 UTC "" "" 25 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9331 male "" "" European "" 9331 Frontal face 2022-02-26 00:41:55 UTC "" "" 14 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9331 male "" "" European "" 9331 Frontal face 2022-02-26 00:41:55 UTC "" "" 14 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9358 male "" "" European "" 9358 Frontal face 2022-02-26 00:42:36 UTC "" "" 2 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9358 male "" "" European "" 9358 Frontal face 2022-02-26 00:42:36 UTC "" "" 2 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9359 male "" "" European "" 9359 Medical information 2021-12-15 19:15:17 UTC "" "" 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9359 male "" "" European "" 9359 Medical information 2021-12-15 19:15:17 UTC "" "" 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9360 male "" "" European "" 9360 Medical information 2021-12-15 19:16:01 UTC "" "" 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9360 male "" "" European "" 9360 Medical information 2021-12-15 19:16:01 UTC "" "" 0 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9361 male "" "" European "" 9361 Medical information 2021-12-15 19:16:45 UTC "" "" 0 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/5258 5258 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9361 male "" "" European "" 9361 Medical information 2021-12-15 19:16:45 UTC "" "" 0 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/579 579 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_718 male PURA http://identifiers.org/ncbigene/5813 Caucasian "" 718 Frontal face 2022-02-25 16:23:16 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 21 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/580 580 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_719 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 719 Frontal face 2022-02-25 16:23:18 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 9 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/581 581 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_720 male PURA http://identifiers.org/ncbigene/5813 Caucasian "" 720 Frontal face 2022-02-25 16:23:20 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 12 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5786 5786 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8726 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8726 Frontal face 2022-02-26 00:28:42 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 4 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5786 5786 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8726 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8726 Frontal face 2022-02-26 00:28:42 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 4 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5786 5786 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8727 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8727 Frontal face 2022-02-26 00:28:45 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 6 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5786 5786 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8727 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8727 Frontal face 2022-02-26 00:28:45 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 6 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5786 5786 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8728 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8728 Frontal face 2022-02-26 00:28:45 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 6 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5786 5786 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8728 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8728 Frontal face 2022-02-26 00:28:45 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 6 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5787 5787 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8729 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8729 Frontal face 2022-02-26 00:28:49 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 2 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5787 5787 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8729 male ADAMTS2 http://identifiers.org/ncbigene/9509 Caucasian "" 8729 Frontal face 2022-02-26 00:28:49 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 2 0 "" NANDO:2201261 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5788 5788 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8730 male ADAMTS2 http://identifiers.org/ncbigene/9509 Asian - West/Middle Eastern "" 8730 Frontal face 2022-02-26 00:28:49 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 7 0 "" NANDO:1200651 MONDO:0009161 OMIM:225410 https://db.gestaltmatcher.org/patients/5788 5788 EHLERS-DANLOS SYNDROME, DERMATOSPARAXIS TYPE https://db.gestaltmatcher.org/patients/image_8730 male ADAMTS2 http://identifiers.org/ncbigene/9509 Asian - West/Middle Eastern "" 8730 Frontal face 2022-02-26 00:28:49 UTC 26765342 http://rdf.ncbi.nlm.nih.gov/pubmed/26765342 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/58 58 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_75 male "" "" "" Thai 75 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 22 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/58 58 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_75 male "" "" "" Thai 75 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 22 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/58 58 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_76 male "" "" "" Thai 76 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 22 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/58 58 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_76 male "" "" "" Thai 76 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 22 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/5799 5799 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_8755 female "" "" Asian "" 8755 Frontal face 2022-02-26 00:29:30 UTC 27436784 http://rdf.ncbi.nlm.nih.gov/pubmed/27436784 0 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5997 5997 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_12693 female ABCA4 http://identifiers.org/ncbigene/24 Caucasian Turkish 12693 Frontal face 2022-10-24 14:54:24 UTC 25574841 http://rdf.ncbi.nlm.nih.gov/pubmed/25574841 0 8 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5997 5997 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_12693 female SMC1A http://identifiers.org/ncbigene/8243 Caucasian Turkish 12693 Frontal face 2022-10-24 14:54:24 UTC 25574841 http://rdf.ncbi.nlm.nih.gov/pubmed/25574841 0 8 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5897 5897 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8917 female ZEB2 http://identifiers.org/ncbigene/9839 Asian Japanese 8917 Frontal face 2022-02-26 00:33:09 UTC 24715670 http://rdf.ncbi.nlm.nih.gov/pubmed/24715670 14 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5897 5897 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8917 female ZEB2 http://identifiers.org/ncbigene/9839 Asian Japanese 8917 Frontal face 2022-02-26 00:33:09 UTC 24715670 http://rdf.ncbi.nlm.nih.gov/pubmed/24715670 14 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5897 5897 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8918 female ZEB2 http://identifiers.org/ncbigene/9839 Asian Japanese 8918 Profile 2021-11-16 09:14:23 UTC 24715670 http://rdf.ncbi.nlm.nih.gov/pubmed/24715670 14 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5897 5897 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8918 female ZEB2 http://identifiers.org/ncbigene/9839 Asian Japanese 8918 Profile 2021-11-16 09:14:23 UTC 24715670 http://rdf.ncbi.nlm.nih.gov/pubmed/24715670 14 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5993 5993 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_9094 male SMC1A http://identifiers.org/ncbigene/8243 Caucasian Turkish 9094 Frontal face 2022-02-26 00:36:48 UTC 25574841 http://rdf.ncbi.nlm.nih.gov/pubmed/25574841 8 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5994 5994 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_9095 male SMC1A http://identifiers.org/ncbigene/8243 Caucasian Turkish 9095 Frontal face 2022-02-26 00:36:49 UTC 25574841 http://rdf.ncbi.nlm.nih.gov/pubmed/25574841 6 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/5995 5995 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_9096 male SMC3 http://identifiers.org/ncbigene/9126 Caucasian Turkish 9096 Frontal face 2022-02-26 00:36:52 UTC 25574841 http://rdf.ncbi.nlm.nih.gov/pubmed/25574841 17 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5952 5952 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22987 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22987 MRI 2024-12-15 10:32:02 UTC 25028418 http://rdf.ncbi.nlm.nih.gov/pubmed/25028418 0 0 T1w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5952 5952 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22987 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22987 MRI 2024-12-15 10:32:02 UTC 25028418 http://rdf.ncbi.nlm.nih.gov/pubmed/25028418 0 0 T1w, sagittal NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5952 5952 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22988 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22988 MRI 2024-12-15 10:32:28 UTC 25028418 http://rdf.ncbi.nlm.nih.gov/pubmed/25028418 0 0 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5952 5952 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22988 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22988 MRI 2024-12-15 10:32:28 UTC 25028418 http://rdf.ncbi.nlm.nih.gov/pubmed/25028418 0 0 T2w, axial NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5952 5952 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22989 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22989 MRI 2024-12-15 10:32:48 UTC 25028418 http://rdf.ncbi.nlm.nih.gov/pubmed/25028418 0 0 T2w, axial NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5952 5952 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_22989 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 22989 MRI 2024-12-15 10:32:48 UTC 25028418 http://rdf.ncbi.nlm.nih.gov/pubmed/25028418 0 0 T2w, axial NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6168 6168 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9462 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9462 Frontal face 2022-02-26 00:44:01 UTC 26114524 http://rdf.ncbi.nlm.nih.gov/pubmed/26114524 0 0 preoperative state NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6168 6168 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9463 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9463 Profile 2022-01-18 18:40:26 UTC 26114524 http://rdf.ncbi.nlm.nih.gov/pubmed/26114524 0 0 preoperative state NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6168 6168 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9464 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9464 Frontal face 2022-02-26 00:44:04 UTC 26114524 http://rdf.ncbi.nlm.nih.gov/pubmed/26114524 0 0 postoperative state NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6168 6168 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9465 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9465 Profile 2022-01-18 18:40:51 UTC 26114524 http://rdf.ncbi.nlm.nih.gov/pubmed/26114524 0 0 postoperative state NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6174 6174 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9475 unknown TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9475 Frontal face 2022-02-26 00:44:15 UTC 31299755 http://rdf.ncbi.nlm.nih.gov/pubmed/31299755 0 4 postoperative NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6174 6174 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9476 unknown TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9476 Profile 2022-01-18 19:06:24 UTC 31299755 http://rdf.ncbi.nlm.nih.gov/pubmed/31299755 0 4 postoperative NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6174 6174 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9477 unknown TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9477 Profile 2022-01-18 19:06:14 UTC 31299755 http://rdf.ncbi.nlm.nih.gov/pubmed/31299755 0 4 postoperative NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6174 6174 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9478 unknown TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9478 Others 2022-01-18 19:06:38 UTC 31299755 http://rdf.ncbi.nlm.nih.gov/pubmed/31299755 0 4 postoperative NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6177 6177 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9484 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9484 Frontal face 2022-02-26 00:44:24 UTC 30040876 http://rdf.ncbi.nlm.nih.gov/pubmed/30040876 0 10 preoperative NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6177 6177 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9485 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9485 Profile 2022-01-18 19:31:51 UTC 30040876 http://rdf.ncbi.nlm.nih.gov/pubmed/30040876 0 10 preoperative NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6178 6178 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9486 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9486 Frontal face 2022-02-26 00:44:26 UTC 30040876 http://rdf.ncbi.nlm.nih.gov/pubmed/30040876 0 9 preoperative NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6178 6178 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9487 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9487 Profile 2023-01-01 14:45:05 UTC 30040876 http://rdf.ncbi.nlm.nih.gov/pubmed/30040876 0 9 preoperative NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6185 6185 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9511 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9511 Frontal face 2022-02-26 00:44:54 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 0 11 after bilateral fronto-orbital advancement remodeling NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6185 6185 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9512 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9512 Profile 2022-01-18 20:35:05 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 0 11 after bilateral fronto-orbital advancement remodeling NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6185 6185 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9513 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9513 Profile 2023-01-01 14:45:37 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 0 11 after bilateral fronto-orbital advancement remodeling NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9420 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9420 Profile 2022-01-05 16:25:54 UTC "" "" 0 0 Geburtsfoto NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9420 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9420 Profile 2022-01-05 16:25:54 UTC "" "" 0 0 Geburtsfoto NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/582 582 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_721 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 721 Frontal face 2022-02-25 16:23:22 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 0 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/583 583 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_722 male PURA http://identifiers.org/ncbigene/5813 Caucasian "" 722 Frontal face 2023-01-08 12:33:33 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 22 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/584 584 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_723 male PURA http://identifiers.org/ncbigene/5813 Caucasian "" 723 Frontal face 2022-02-25 16:23:26 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 1 6 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/585 585 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_724 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 724 Frontal face 2022-02-25 16:23:27 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 4 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/587 587 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_726 male PURA http://identifiers.org/ncbigene/5813 Caucasian "" 726 Frontal face 2022-02-25 16:23:31 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 1 9 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/588 588 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_727 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 727 Frontal face 2022-02-25 16:23:33 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 14 5 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/589 589 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_728 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 728 Frontal face 2022-02-25 16:23:35 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 4 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/590 590 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_729 male PURA http://identifiers.org/ncbigene/5813 Caucasian "" 729 Frontal face 2022-02-25 16:23:37 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 9 3 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/591 591 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_730 male PURA http://identifiers.org/ncbigene/5813 Caucasian "" 730 Frontal face 2022-02-25 16:23:38 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 9 3 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/592 592 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY 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16:23:44 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 16 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/595 595 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_734 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 734 Frontal face 2022-02-25 16:23:46 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 15 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/596 596 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_735 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 735 Frontal face 2022-02-25 16:23:48 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 0 11 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/597 597 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_736 male PURA http://identifiers.org/ncbigene/5813 Asian "" 736 Frontal face 2022-02-25 16:23:49 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 9 10 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/598 598 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_737 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 737 Frontal face 2022-02-25 16:23:52 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 9 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/599 599 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_738 female PURA http://identifiers.org/ncbigene/5813 Caucasian "" 738 Frontal face 2022-02-25 16:23:53 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 0 8 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8848 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8848 Frontal face 2022-02-26 00:31:30 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8848 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8848 Frontal face 2022-02-26 00:31:30 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8849 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8849 Frontal face 2022-02-26 00:31:32 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8849 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8849 Frontal face 2022-02-26 00:31:32 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8850 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8850 Frontal face 2022-02-26 00:31:33 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8850 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8850 Frontal face 2022-02-26 00:31:33 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8851 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8851 Frontal face 2022-02-26 00:31:36 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8851 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8851 Frontal face 2022-02-26 00:31:36 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8852 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8852 Frontal face 2022-02-26 00:31:37 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8852 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8852 Frontal face 2022-02-26 00:31:37 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8853 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8853 Frontal face 2022-02-26 00:31:40 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 8 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5856 5856 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_8853 male ZEB2 http://identifiers.org/ncbigene/9839 Jewish - Ashkenazi "" 8853 Frontal face 2022-02-26 00:31:40 UTC 26721324 http://rdf.ncbi.nlm.nih.gov/pubmed/26721324 8 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5952 5952 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_9008 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 9008 Frontal face 2022-02-26 00:35:03 UTC 25028418 http://rdf.ncbi.nlm.nih.gov/pubmed/25028418 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/5952 5952 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_9008 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 9008 Frontal face 2022-02-26 00:35:03 UTC 25028418 http://rdf.ncbi.nlm.nih.gov/pubmed/25028418 0 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/6063 6063 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_9237 male ATRX http://identifiers.org/ncbigene/546 Asian - East "" 9237 Frontal face 2022-02-26 00:39:59 UTC 25936994 http://rdf.ncbi.nlm.nih.gov/pubmed/25936994 9 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/6063 6063 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_9237 male ATRX http://identifiers.org/ncbigene/546 Asian - East "" 9237 Frontal face 2022-02-26 00:39:59 UTC 25936994 http://rdf.ncbi.nlm.nih.gov/pubmed/25936994 9 0 "" NANDO:1200665 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/6063 6063 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_9238 male ATRX http://identifiers.org/ncbigene/546 Asian - East "" 9238 Profile 2021-12-08 17:57:38 UTC 25936994 http://rdf.ncbi.nlm.nih.gov/pubmed/25936994 9 0 "" NANDO:2200839 MONDO:0010519 OMIM:301040 https://db.gestaltmatcher.org/patients/6063 6063 ALPHA-THALASSEMIA/IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME, X-LINKED https://db.gestaltmatcher.org/patients/image_9238 male ATRX http://identifiers.org/ncbigene/546 Asian - East "" 9238 Profile 2021-12-08 17:57:38 UTC 25936994 http://rdf.ncbi.nlm.nih.gov/pubmed/25936994 9 0 "" NANDO:1200338 MONDO:0009735 OMIM:256500 https://db.gestaltmatcher.org/patients/6136 6136 NETHERTON SYNDROME https://db.gestaltmatcher.org/patients/image_9377 male SPINK5 http://identifiers.org/ncbigene/11005 Caucasian "" 9377 Frontal face 2022-02-26 00:42:53 UTC 25710899 http://rdf.ncbi.nlm.nih.gov/pubmed/25710899 2 5 "" NANDO:2200993 MONDO:0009735 OMIM:256500 https://db.gestaltmatcher.org/patients/6136 6136 NETHERTON SYNDROME https://db.gestaltmatcher.org/patients/image_9377 male SPINK5 http://identifiers.org/ncbigene/11005 Caucasian "" 9377 Frontal face 2022-02-26 00:42:53 UTC 25710899 http://rdf.ncbi.nlm.nih.gov/pubmed/25710899 2 5 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6137 6137 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9378 male KMT2D http://identifiers.org/ncbigene/8085 Arab "" 9378 Frontal face 2022-02-26 00:42:55 UTC 25338707 http://rdf.ncbi.nlm.nih.gov/pubmed/25338707 16 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6137 6137 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9378 male KMT2D http://identifiers.org/ncbigene/8085 Arab "" 9378 Frontal face 2022-02-26 00:42:55 UTC 25338707 http://rdf.ncbi.nlm.nih.gov/pubmed/25338707 16 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6137 6137 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9379 male KMT2D http://identifiers.org/ncbigene/8085 Arab "" 9379 Profile 2021-12-17 13:33:55 UTC 25338707 http://rdf.ncbi.nlm.nih.gov/pubmed/25338707 16 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6137 6137 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9379 male KMT2D http://identifiers.org/ncbigene/8085 Arab "" 9379 Profile 2021-12-17 13:33:55 UTC 25338707 http://rdf.ncbi.nlm.nih.gov/pubmed/25338707 16 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6156 6156 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9449 female TWIST1 http://identifiers.org/ncbigene/7291 Unknown "" 9449 Frontal face 2022-02-26 00:43:49 UTC 19483581 http://rdf.ncbi.nlm.nih.gov/pubmed/19483581 0 8 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6156 6156 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9450 female TWIST1 http://identifiers.org/ncbigene/7291 Unknown "" 9450 Profile 2022-01-12 14:45:11 UTC 19483581 http://rdf.ncbi.nlm.nih.gov/pubmed/19483581 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6167 6167 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9459 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9459 Frontal face 2022-02-26 00:44:00 UTC 27870659 http://rdf.ncbi.nlm.nih.gov/pubmed/27870659 4 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6167 6167 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9460 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9460 Others 2022-01-18 18:35:34 UTC 27870659 http://rdf.ncbi.nlm.nih.gov/pubmed/27870659 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6167 6167 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9461 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9461 Others 2022-01-18 18:35:45 UTC 27870659 http://rdf.ncbi.nlm.nih.gov/pubmed/27870659 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6169 6169 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9466 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - East "" 9466 Frontal face 2022-02-26 00:44:05 UTC 23958897 http://rdf.ncbi.nlm.nih.gov/pubmed/23958897 1 4 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6169 6169 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9467 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - East "" 9467 Limbs 2022-01-18 18:45:34 UTC 23958897 http://rdf.ncbi.nlm.nih.gov/pubmed/23958897 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6170 6170 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9468 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9468 Frontal face 2022-02-26 00:44:08 UTC 19860490 http://rdf.ncbi.nlm.nih.gov/pubmed/19860490 5 6 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6171 6171 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9469 female TWIST1 http://identifiers.org/ncbigene/7291 American - Latin/Hispanic "" 9469 Frontal face 2022-02-26 00:44:09 UTC 20184424 http://rdf.ncbi.nlm.nih.gov/pubmed/20184424 45 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6171 6171 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9470 female TWIST1 http://identifiers.org/ncbigene/7291 American - Latin/Hispanic "" 9470 Profile 2022-01-18 18:56:15 UTC 20184424 http://rdf.ncbi.nlm.nih.gov/pubmed/20184424 45 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6172 6172 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9471 male TWIST1 http://identifiers.org/ncbigene/7291 American - Latin/Hispanic "" 9471 Frontal face 2022-02-26 00:44:11 UTC 20184424 http://rdf.ncbi.nlm.nih.gov/pubmed/20184424 14 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6172 6172 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9472 male TWIST1 http://identifiers.org/ncbigene/7291 American - Latin/Hispanic "" 9472 Profile 2022-01-18 18:57:11 UTC 20184424 http://rdf.ncbi.nlm.nih.gov/pubmed/20184424 14 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6173 6173 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9473 female TWIST1 http://identifiers.org/ncbigene/7291 American - Latin/Hispanic "" 9473 Frontal face 2022-02-26 00:44:13 UTC 20184424 http://rdf.ncbi.nlm.nih.gov/pubmed/20184424 12 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6173 6173 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9474 female TWIST1 http://identifiers.org/ncbigene/7291 American - Latin/Hispanic "" 9474 Profile 2022-01-18 18:58:01 UTC 20184424 http://rdf.ncbi.nlm.nih.gov/pubmed/20184424 12 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6176 6176 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9482 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9482 Frontal face 2022-02-26 00:44:23 UTC 29392564 http://rdf.ncbi.nlm.nih.gov/pubmed/29392564 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6176 6176 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9483 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9483 Profile 2022-01-18 19:13:33 UTC 29392564 http://rdf.ncbi.nlm.nih.gov/pubmed/29392564 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9496 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9496 Frontal face 2022-02-26 00:44:41 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 0 3 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9497 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9497 Profile 2022-01-18 20:29:17 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 0 3 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9498 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9498 Profile 2022-01-18 20:29:29 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 0 3 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9499 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9499 Frontal face 2022-02-26 00:44:42 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 4 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9500 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9500 Profile 2022-01-18 20:29:58 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 4 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9501 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9501 Profile 2022-01-18 20:30:14 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 4 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9502 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9502 Frontal face 2022-02-26 00:44:45 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 5 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9503 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9503 Profile 2022-01-18 20:30:47 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 5 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9504 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9504 Frontal face 2022-02-26 00:44:46 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 7 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9505 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9505 Profile 2022-01-18 20:31:24 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 7 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9506 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9506 Frontal face 2022-02-26 00:44:48 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 9 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6184 6184 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9507 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9507 Profile 2022-01-18 20:31:48 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 9 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6185 6185 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9508 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9508 Frontal face 2022-02-26 00:44:50 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 0 6 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6185 6185 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9509 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9509 Profile 2022-01-18 20:33:58 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 0 6 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6185 6185 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9510 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9510 Profile 2023-01-01 14:45:24 UTC 19952666 http://rdf.ncbi.nlm.nih.gov/pubmed/19952666 0 6 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6186 6186 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9514 unknown TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9514 Frontal face 2022-02-26 00:44:57 UTC 33749202 http://rdf.ncbi.nlm.nih.gov/pubmed/33749202 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6186 6186 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9515 unknown TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9515 Profile 2022-01-18 20:38:13 UTC 33749202 http://rdf.ncbi.nlm.nih.gov/pubmed/33749202 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6187 6187 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9516 unknown TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9516 Frontal face 2022-02-26 00:45:00 UTC 15923834 http://rdf.ncbi.nlm.nih.gov/pubmed/15923834 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6187 6187 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9517 unknown TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 9517 Profile 2022-01-18 20:43:03 UTC 15923834 http://rdf.ncbi.nlm.nih.gov/pubmed/15923834 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6188 6188 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9518 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9518 Frontal face 2022-02-26 00:45:01 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6188 6188 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9519 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9519 Profile 2022-01-19 13:02:44 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6189 6189 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9520 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9520 Frontal face 2022-02-26 00:45:04 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6189 6189 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9521 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9521 Profile 2022-01-19 13:04:09 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6190 6190 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9522 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9522 Frontal face 2022-02-26 00:45:05 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6190 6190 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9523 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9523 Profile 2022-01-19 13:05:07 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6191 6191 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9524 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9524 Frontal face 2022-02-26 00:45:07 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6191 6191 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9525 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9525 Profile 2022-01-19 13:07:11 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6192 6192 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9526 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9526 Frontal face 2022-02-26 00:45:09 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6192 6192 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9527 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9527 Profile 2022-01-19 13:08:41 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6193 6193 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9528 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9528 Frontal face 2022-02-26 00:45:11 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6193 6193 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9529 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9529 Profile 2022-01-19 13:09:37 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6194 6194 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9530 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9530 Frontal face 2022-02-26 00:45:12 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6194 6194 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9531 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9531 Profile 2022-01-19 13:10:39 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6195 6195 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9532 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9532 Frontal face 2022-02-26 00:45:15 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6195 6195 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9533 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9533 Profile 2022-01-19 13:11:26 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6196 6196 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9534 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9534 Frontal face 2022-02-26 00:45:16 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6196 6196 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9535 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9535 Profile 2022-01-19 13:14:44 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6197 6197 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9536 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9536 Frontal face 2022-02-26 00:45:19 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6197 6197 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9537 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9537 Profile 2022-01-19 13:15:29 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6198 6198 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9538 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9538 Frontal face 2022-02-26 00:45:20 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6198 6198 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9539 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9539 Profile 2022-01-19 13:16:16 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6199 6199 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9540 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9540 Frontal face 2022-02-26 00:45:23 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6199 6199 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9541 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9541 Profile 2022-01-19 13:17:19 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6200 6200 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9542 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9542 Frontal face 2022-02-26 00:45:24 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6200 6200 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9543 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9543 Profile 2022-01-19 13:18:02 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6201 6201 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9544 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9544 Frontal face 2022-02-26 00:45:27 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6201 6201 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9545 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9545 Profile 2022-01-19 13:18:45 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6202 6202 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9546 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9546 Frontal face 2022-02-26 00:45:28 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6202 6202 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9547 male TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9547 Profile 2022-01-19 13:19:24 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6203 6203 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9548 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9548 Frontal face 2022-02-26 00:45:30 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6203 6203 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_9549 female TWIST1 http://identifiers.org/ncbigene/7291 Asian - South/Indian "" 9549 Profile 2022-01-19 13:20:04 UTC 11977182 http://rdf.ncbi.nlm.nih.gov/pubmed/11977182 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6264 6264 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9649 male CHD7 http://identifiers.org/ncbigene/55636 American - Latin/Hispanic "" 9649 Frontal face 2022-02-26 00:47:23 UTC 33184947 http://rdf.ncbi.nlm.nih.gov/pubmed/33184947 7 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6264 6264 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9649 male CHD7 http://identifiers.org/ncbigene/55636 American - Latin/Hispanic "" 9649 Frontal face 2022-02-26 00:47:23 UTC 33184947 http://rdf.ncbi.nlm.nih.gov/pubmed/33184947 7 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6265 6265 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9650 male CHD7 http://identifiers.org/ncbigene/55636 American - Latin/Hispanic "" 9650 Frontal face 2022-02-26 00:47:24 UTC 31929333 http://rdf.ncbi.nlm.nih.gov/pubmed/31929333 0 7 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6265 6265 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9650 male CHD7 http://identifiers.org/ncbigene/55636 American - Latin/Hispanic "" 9650 Frontal face 2022-02-26 00:47:24 UTC 31929333 http://rdf.ncbi.nlm.nih.gov/pubmed/31929333 0 7 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6265 6265 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9651 male CHD7 http://identifiers.org/ncbigene/55636 American - Latin/Hispanic "" 9651 Profile 2022-01-19 18:28:58 UTC 31929333 http://rdf.ncbi.nlm.nih.gov/pubmed/31929333 0 7 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6265 6265 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9651 male CHD7 http://identifiers.org/ncbigene/55636 American - Latin/Hispanic "" 9651 Profile 2022-01-19 18:28:58 UTC 31929333 http://rdf.ncbi.nlm.nih.gov/pubmed/31929333 0 7 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6266 6266 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9652 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 9652 Frontal face 2022-02-26 00:47:27 UTC 33844462 http://rdf.ncbi.nlm.nih.gov/pubmed/33844462 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6266 6266 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9652 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 9652 Frontal face 2022-02-26 00:47:27 UTC 33844462 http://rdf.ncbi.nlm.nih.gov/pubmed/33844462 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6266 6266 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9653 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 9653 Profile 2022-01-19 18:31:47 UTC 33844462 http://rdf.ncbi.nlm.nih.gov/pubmed/33844462 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6266 6266 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9653 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 9653 Profile 2022-01-19 18:31:47 UTC 33844462 http://rdf.ncbi.nlm.nih.gov/pubmed/33844462 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6266 6266 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9654 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 9654 Profile 2022-01-19 18:31:57 UTC 33844462 http://rdf.ncbi.nlm.nih.gov/pubmed/33844462 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6266 6266 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9654 female CHD7 http://identifiers.org/ncbigene/55636 Caucasian "" 9654 Profile 2022-01-19 18:31:57 UTC 33844462 http://rdf.ncbi.nlm.nih.gov/pubmed/33844462 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6267 6267 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9655 female CHD7 http://identifiers.org/ncbigene/55636 American - Latin/Hispanic "" 9655 Frontal face 2022-02-26 00:47:28 UTC 31859737 http://rdf.ncbi.nlm.nih.gov/pubmed/31859737 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6267 6267 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9655 female CHD7 http://identifiers.org/ncbigene/55636 American - Latin/Hispanic "" 9655 Frontal face 2022-02-26 00:47:28 UTC 31859737 http://rdf.ncbi.nlm.nih.gov/pubmed/31859737 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6268 6268 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9656 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 9656 Frontal face 2022-02-26 00:47:31 UTC 26187070 http://rdf.ncbi.nlm.nih.gov/pubmed/26187070 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6268 6268 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9656 male CHD7 http://identifiers.org/ncbigene/55636 Asian - East "" 9656 Frontal face 2022-02-26 00:47:31 UTC 26187070 http://rdf.ncbi.nlm.nih.gov/pubmed/26187070 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6269 6269 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9657 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9657 Frontal face 2022-02-26 00:47:31 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 2 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6269 6269 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9657 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9657 Frontal face 2022-02-26 00:47:31 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 2 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6269 6269 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9658 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9658 Profile 2022-01-19 18:46:20 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 2 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6269 6269 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9658 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9658 Profile 2022-01-19 18:46:20 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 2 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6270 6270 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9659 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9659 Frontal face 2022-02-26 00:47:34 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6270 6270 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9659 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9659 Frontal face 2022-02-26 00:47:34 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6270 6270 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9660 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9660 Profile 2022-01-19 18:47:10 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6270 6270 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9660 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9660 Profile 2022-01-19 18:47:10 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6270 6270 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9661 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9661 Profile 2022-01-19 18:47:19 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6270 6270 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9661 male CHD7 http://identifiers.org/ncbigene/55636 Caucasian, European "" 9661 Profile 2022-01-19 18:47:19 UTC 18978652 http://rdf.ncbi.nlm.nih.gov/pubmed/18978652 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6271 6271 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9662 female CHD7 http://identifiers.org/ncbigene/55636 African - Sub-Saharan "" 9662 Frontal face 2022-02-26 00:47:35 UTC 32384900 http://rdf.ncbi.nlm.nih.gov/pubmed/32384900 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6271 6271 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9662 female CHD7 http://identifiers.org/ncbigene/55636 African - Sub-Saharan "" 9662 Frontal face 2022-02-26 00:47:35 UTC 32384900 http://rdf.ncbi.nlm.nih.gov/pubmed/32384900 0 0 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6271 6271 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9663 female CHD7 http://identifiers.org/ncbigene/55636 African - Sub-Saharan "" 9663 Profile 2022-01-19 18:51:44 UTC 32384900 http://rdf.ncbi.nlm.nih.gov/pubmed/32384900 0 0 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/6271 6271 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_9663 female CHD7 http://identifiers.org/ncbigene/55636 African - Sub-Saharan "" 9663 Profile 2022-01-19 18:51:44 UTC 32384900 http://rdf.ncbi.nlm.nih.gov/pubmed/32384900 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6275 6275 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9664 female UBE3A http://identifiers.org/ncbigene/7337 Asian "" 9664 Frontal face 2022-02-26 00:47:38 UTC 34976390 http://rdf.ncbi.nlm.nih.gov/pubmed/34976390 3 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6275 6275 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9664 female UBE3A http://identifiers.org/ncbigene/7337 Asian "" 9664 Frontal face 2022-02-26 00:47:38 UTC 34976390 http://rdf.ncbi.nlm.nih.gov/pubmed/34976390 3 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6275 6275 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9666 female UBE3A http://identifiers.org/ncbigene/7337 Asian "" 9666 MRI 2022-01-26 17:16:54 UTC 34976390 http://rdf.ncbi.nlm.nih.gov/pubmed/34976390 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6275 6275 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9666 female UBE3A http://identifiers.org/ncbigene/7337 Asian "" 9666 MRI 2022-01-26 17:16:54 UTC 34976390 http://rdf.ncbi.nlm.nih.gov/pubmed/34976390 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6275 6275 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9667 female UBE3A http://identifiers.org/ncbigene/7337 Asian "" 9667 MRI 2022-01-26 17:17:26 UTC 34976390 http://rdf.ncbi.nlm.nih.gov/pubmed/34976390 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6275 6275 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9667 female UBE3A http://identifiers.org/ncbigene/7337 Asian "" 9667 MRI 2022-01-26 17:17:26 UTC 34976390 http://rdf.ncbi.nlm.nih.gov/pubmed/34976390 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6275 6275 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9668 female UBE3A http://identifiers.org/ncbigene/7337 Asian "" 9668 MRI 2022-01-26 17:18:00 UTC 34976390 http://rdf.ncbi.nlm.nih.gov/pubmed/34976390 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6275 6275 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9668 female UBE3A http://identifiers.org/ncbigene/7337 Asian "" 9668 MRI 2022-01-26 17:18:00 UTC 34976390 http://rdf.ncbi.nlm.nih.gov/pubmed/34976390 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6277 6277 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9670 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9670 Frontal face 2022-02-26 00:47:42 UTC 23622177 http://rdf.ncbi.nlm.nih.gov/pubmed/23622177 6 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6277 6277 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9670 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9670 Frontal face 2022-02-26 00:47:42 UTC 23622177 http://rdf.ncbi.nlm.nih.gov/pubmed/23622177 6 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6282 6282 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9696 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9696 Frontal face 2022-02-26 00:48:28 UTC 12566516 http://rdf.ncbi.nlm.nih.gov/pubmed/12566516 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6282 6282 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9696 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9696 Frontal face 2022-02-26 00:48:28 UTC 12566516 http://rdf.ncbi.nlm.nih.gov/pubmed/12566516 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6283 6283 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9697 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9697 Frontal face 2022-02-26 00:48:31 UTC 12566516 http://rdf.ncbi.nlm.nih.gov/pubmed/12566516 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6283 6283 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9697 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9697 Frontal face 2022-02-26 00:48:31 UTC 12566516 http://rdf.ncbi.nlm.nih.gov/pubmed/12566516 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6284 6284 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9698 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9698 Frontal face 2022-02-26 00:48:32 UTC 12566516 http://rdf.ncbi.nlm.nih.gov/pubmed/12566516 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6284 6284 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9698 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9698 Frontal face 2022-02-26 00:48:32 UTC 12566516 http://rdf.ncbi.nlm.nih.gov/pubmed/12566516 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6285 6285 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9699 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9699 Frontal face 2022-02-26 00:48:35 UTC 12566516 http://rdf.ncbi.nlm.nih.gov/pubmed/12566516 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6285 6285 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9699 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9699 Frontal face 2022-02-26 00:48:35 UTC 12566516 http://rdf.ncbi.nlm.nih.gov/pubmed/12566516 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16050 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16050 Frontal face 2023-12-06 14:14:59 UTC "" "" 1 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16050 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16050 Frontal face 2023-12-06 14:14:59 UTC "" "" 1 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16051 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16051 Frontal face 2023-12-06 14:16:13 UTC "" "" 12 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16051 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16051 Frontal face 2023-12-06 14:16:13 UTC "" "" 12 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16052 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16052 Frontal face 2023-12-06 14:17:06 UTC "" "" 19 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16052 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16052 Frontal face 2023-12-06 14:17:06 UTC "" "" 19 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16053 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16053 Frontal face 2023-12-06 14:17:40 UTC "" "" 18 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16053 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16053 Frontal face 2023-12-06 14:17:40 UTC "" "" 18 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16054 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16054 Frontal face 2023-12-06 14:18:24 UTC "" "" 20 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16054 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16054 Frontal face 2023-12-06 14:18:24 UTC "" "" 20 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16055 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16055 Frontal face 2023-12-06 14:19:17 UTC "" "" 16 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_16055 female RAI1 http://identifiers.org/ncbigene/10743 European "" 16055 Frontal face 2023-12-06 14:19:17 UTC "" "" 16 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9047 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9047 Frontal face 2022-02-26 00:35:51 UTC "" "" 11 9 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9047 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9047 Frontal face 2022-02-26 00:35:51 UTC "" "" 11 9 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9048 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9048 Frontal face 2022-02-26 00:35:52 UTC "" "" 0 5 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9048 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9048 Frontal face 2022-02-26 00:35:52 UTC "" "" 0 5 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9049 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9049 Frontal face 2022-02-26 00:35:55 UTC "" "" 6 7 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9049 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9049 Frontal face 2022-02-26 00:35:55 UTC "" "" 6 7 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9050 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9050 Frontal face 2022-02-26 00:35:56 UTC "" "" 17 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9050 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9050 Frontal face 2022-02-26 00:35:56 UTC "" "" 17 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9051 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9051 Frontal face 2022-02-26 00:35:59 UTC "" "" 27 9 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9051 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9051 Frontal face 2022-02-26 00:35:59 UTC "" "" 27 9 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9052 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9052 Frontal face 2022-02-26 00:36:00 UTC "" "" 0 6 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9052 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9052 Frontal face 2022-02-26 00:36:00 UTC "" "" 0 6 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9053 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9053 Frontal face 2022-02-26 00:36:03 UTC "" "" 3 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9053 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9053 Frontal face 2022-02-26 00:36:03 UTC "" "" 3 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9054 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9054 Frontal face 2022-02-26 00:36:04 UTC "" "" 15 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9054 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9054 Frontal face 2022-02-26 00:36:04 UTC "" "" 15 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9055 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9055 Frontal face 2022-02-26 00:36:06 UTC "" "" 22 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9055 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9055 Frontal face 2022-02-26 00:36:06 UTC "" "" 22 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9056 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9056 Frontal face 2022-02-26 00:36:08 UTC "" "" 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5971 5971 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9056 female RAI1 http://identifiers.org/ncbigene/10743 European "" 9056 Frontal face 2022-02-26 00:36:08 UTC "" "" 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9057 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9057 Frontal face 2022-02-26 00:36:10 UTC "" "" 27 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9057 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9057 Frontal face 2022-02-26 00:36:10 UTC "" "" 27 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9161 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9161 Medical information 2023-01-03 08:28:22 UTC "" "" 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/5972 5972 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_9161 male RAI1 http://identifiers.org/ncbigene/10743 European "" 9161 Medical information 2023-01-03 08:28:22 UTC "" "" 0 0 "" NANDO:1200580 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/6130 6130 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_9355 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian, European "" 9355 Profile 2021-12-15 14:48:52 UTC "" "" 1 10 "" NANDO:2201292 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/6130 6130 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_9355 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian, European "" 9355 Profile 2021-12-15 14:48:52 UTC "" "" 1 10 "" NANDO:1200580 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/6130 6130 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_9356 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian, European "" 9356 Frontal face 2022-02-26 00:42:32 UTC "" "" 1 10 "" NANDO:2201292 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/6130 6130 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_9356 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian, European "" 9356 Frontal face 2022-02-26 00:42:32 UTC "" "" 1 10 "" NANDO:1200580 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/6130 6130 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_9357 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian, European "" 9357 Frontal face 2022-02-26 00:42:34 UTC "" "" 1 10 "" NANDO:2201292 MONDO:0010354 OMIM:300523 https://db.gestaltmatcher.org/patients/6130 6130 ALLAN-HERNDON-DUDLEY SYNDROME https://db.gestaltmatcher.org/patients/image_9357 male SLC16A2 http://identifiers.org/ncbigene/6567 Caucasian, European "" 9357 Frontal face 2022-02-26 00:42:34 UTC "" "" 1 10 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9419 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9419 Frontal face 2022-02-26 00:43:15 UTC "" "" 0 2 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9419 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9419 Frontal face 2022-02-26 00:43:15 UTC "" "" 0 2 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9421 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9421 Frontal face 2022-02-26 00:43:18 UTC "" "" 0 7 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9421 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9421 Frontal face 2022-02-26 00:43:18 UTC "" "" 0 7 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9422 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9422 Frontal face 2022-02-26 00:43:19 UTC "" "" 1 8 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9422 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9422 Frontal face 2022-02-26 00:43:19 UTC "" "" 1 8 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9423 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9423 Frontal face 2022-02-26 00:43:22 UTC "" "" 3 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9423 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9423 Frontal face 2022-02-26 00:43:22 UTC "" "" 3 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9426 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9426 Frontal face 2022-02-26 00:43:23 UTC "" "" 6 3 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9426 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9426 Frontal face 2022-02-26 00:43:23 UTC "" "" 6 3 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9427 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9427 Frontal face 2022-02-26 00:43:25 UTC "" "" 3 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9427 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9427 Frontal face 2022-02-26 00:43:25 UTC "" "" 3 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9429 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9429 Lab results (genetic testing) 2022-01-07 15:54:45 UTC "" "" 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9429 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9429 Lab results (genetic testing) 2022-01-07 15:54:45 UTC "" "" 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9430 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9430 Frontal face 2022-02-26 00:43:27 UTC "" "" 0 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9430 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9430 Frontal face 2022-02-26 00:43:27 UTC "" "" 0 4 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9432 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9432 Frontal face 2022-02-26 00:43:30 UTC "" "" 1 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9432 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9432 Frontal face 2022-02-26 00:43:30 UTC "" "" 1 4 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9433 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9433 Profile 2022-01-07 15:59:57 UTC "" "" 1 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9433 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9433 Profile 2022-01-07 15:59:57 UTC "" "" 1 4 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9434 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9434 Frontal face 2022-02-26 00:43:31 UTC "" "" 2 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9434 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9434 Frontal face 2022-02-26 00:43:31 UTC "" "" 2 4 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9435 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9435 Profile 2022-01-07 16:02:28 UTC "" "" 2 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9435 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9435 Profile 2022-01-07 16:02:28 UTC "" "" 2 4 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9436 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9436 Frontal face 2022-02-26 00:43:33 UTC "" "" 3 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9436 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9436 Frontal face 2022-02-26 00:43:33 UTC "" "" 3 4 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9437 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9437 Profile 2022-01-07 16:03:09 UTC "" "" 3 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9437 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9437 Profile 2022-01-07 16:03:09 UTC "" "" 3 4 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9438 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9438 Frontal face 2022-02-26 00:43:35 UTC "" "" 4 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9438 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9438 Frontal face 2022-02-26 00:43:35 UTC "" "" 4 4 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9439 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9439 Profile 2022-01-07 16:03:46 UTC "" "" 4 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9439 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9439 Profile 2022-01-07 16:03:46 UTC "" "" 4 4 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9440 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9440 Frontal face 2022-02-26 00:43:37 UTC "" "" 5 4 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6147 6147 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_9440 female FGFR2 http://identifiers.org/ncbigene/2263 Caucasian "" 9440 Frontal face 2022-02-26 00:43:37 UTC "" "" 5 4 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/608 608 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_13700 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 13700 Profile 2023-01-13 11:54:46 UTC 25734025 http://rdf.ncbi.nlm.nih.gov/pubmed/25734025 0 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/608 608 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_13700 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 13700 Profile 2023-01-13 11:54:46 UTC 25734025 http://rdf.ncbi.nlm.nih.gov/pubmed/25734025 0 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/606 606 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_16037 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 16037 Profile 2023-11-30 14:35:51 UTC 25734025 http://rdf.ncbi.nlm.nih.gov/pubmed/25734025 0 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/606 606 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_16037 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 16037 Profile 2023-11-30 14:35:51 UTC 25734025 http://rdf.ncbi.nlm.nih.gov/pubmed/25734025 0 0 "" NANDO:1201108 MONDO:0014512 OMIM:616158 https://db.gestaltmatcher.org/patients/586 586 NEURODEVELOPMENTAL DISORDER WITH NEONATAL RESPIRATORY INSUFFICIENCY, HYPOTONIA, AND FEEDING DIFFICULTIES https://db.gestaltmatcher.org/patients/image_725 male PURA http://identifiers.org/ncbigene/5813 "" "" 725 Frontal face 2022-02-25 16:23:30 UTC 29097605 http://rdf.ncbi.nlm.nih.gov/pubmed/29097605 6 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/606 606 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_746 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 746 Frontal face 2022-02-25 16:24:05 UTC 25734025 http://rdf.ncbi.nlm.nih.gov/pubmed/25734025 0 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/606 606 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_746 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 746 Frontal face 2022-02-25 16:24:05 UTC 25734025 http://rdf.ncbi.nlm.nih.gov/pubmed/25734025 0 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/608 608 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_750 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 750 Frontal face 2022-02-25 16:24:11 UTC 25734025 http://rdf.ncbi.nlm.nih.gov/pubmed/25734025 0 0 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/608 608 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_750 unknown DHCR7 http://identifiers.org/ncbigene/1717 "" "" 750 Frontal face 2022-02-25 16:24:11 UTC 25734025 http://rdf.ncbi.nlm.nih.gov/pubmed/25734025 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6 6 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_6 male "" "" African Ghana 6 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6 6 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_6 male "" "" African Ghana 6 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 6 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6 6 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_7 male "" "" African Ghana 7 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6 6 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_7 male "" "" African Ghana 7 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/60 60 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_78 female "" "" "" American (Asian descent) 78 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/60 60 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_78 female "" "" "" American (Asian descent) 78 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/60 60 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_79 female "" "" "" American (Asian descent) 79 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/60 60 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_79 female "" "" "" American (Asian descent) 79 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/61 61 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_80 male "" "" "" American (Hawai) 80 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 12 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/61 61 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_80 male "" "" "" American (Hawai) 80 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 12 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/62 62 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_81 male "" "" "" American 81 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/62 62 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_81 male "" "" "" American 81 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 17 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/6089 6089 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_9291 male "" "" Caucasian "" 9291 Frontal face 2022-02-26 00:41:07 UTC 25370043 http://rdf.ncbi.nlm.nih.gov/pubmed/25370043 0 0 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/6089 6089 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_9291 male "" "" Caucasian "" 9291 Frontal face 2022-02-26 00:41:07 UTC 25370043 http://rdf.ncbi.nlm.nih.gov/pubmed/25370043 0 0 "" NANDO:1200685 MONDO:0011975 OMIM:608149 https://db.gestaltmatcher.org/patients/6127 6127 KAGAMI-OGATA SYNDROME https://db.gestaltmatcher.org/patients/image_9351 female "" "" Asian - East "" 9351 Frontal face 2022-02-26 00:42:24 UTC 25689926 http://rdf.ncbi.nlm.nih.gov/pubmed/25689926 13 0 "" NANDO:1200685 MONDO:0011975 OMIM:608149 https://db.gestaltmatcher.org/patients/6127 6127 KAGAMI-OGATA SYNDROME https://db.gestaltmatcher.org/patients/image_9352 female "" "" Asian - East "" 9352 Frontal face 2022-02-26 00:42:26 UTC 25689926 http://rdf.ncbi.nlm.nih.gov/pubmed/25689926 0 10 "" NANDO:1200685 MONDO:0011975 OMIM:608149 https://db.gestaltmatcher.org/patients/6128 6128 KAGAMI-OGATA SYNDROME https://db.gestaltmatcher.org/patients/image_9353 unknown "" "" Asian - East "" 9353 Frontal face 2022-02-26 00:42:28 UTC 25689926 http://rdf.ncbi.nlm.nih.gov/pubmed/25689926 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6278 6278 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9671 unknown "" "" Caucasian "" 9671 Frontal face 2022-02-26 00:47:43 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6278 6278 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9671 unknown "" "" Caucasian "" 9671 Frontal face 2022-02-26 00:47:43 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6278 6278 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9672 unknown "" "" Caucasian "" 9672 Frontal face 2022-02-26 00:47:46 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6278 6278 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9672 unknown "" "" Caucasian "" 9672 Frontal face 2022-02-26 00:47:46 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6278 6278 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9673 unknown "" "" Caucasian "" 9673 Frontal face 2022-02-26 00:47:47 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6278 6278 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9673 unknown "" "" Caucasian "" 9673 Frontal face 2022-02-26 00:47:47 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6279 6279 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9674 male "" "" Caucasian "" 9674 Frontal face 2022-02-26 00:47:50 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 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"" Caucasian "" 9681 Frontal face 2022-02-26 00:48:02 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6279 6279 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9681 male "" "" Caucasian "" 9681 Frontal face 2022-02-26 00:48:02 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6279 6279 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9684 male "" "" Caucasian "" 9684 Frontal face 2022-02-26 00:48:08 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6279 6279 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9684 male "" "" Caucasian "" 9684 Frontal face 2022-02-26 00:48:08 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9685 male "" "" Caucasian "" 9685 Frontal face 2022-02-26 00:48:09 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9685 male "" "" Caucasian "" 9685 Frontal face 2022-02-26 00:48:09 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9686 male "" "" Caucasian "" 9686 Frontal face 2022-02-26 00:48:12 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9686 male "" "" Caucasian "" 9686 Frontal face 2022-02-26 00:48:12 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9687 male "" "" Caucasian "" 9687 Frontal face 2022-02-26 00:48:13 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9687 male "" "" Caucasian "" 9687 Frontal face 2022-02-26 00:48:13 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9688 male "" "" Caucasian "" 9688 Frontal face 2022-02-26 00:48:15 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9688 male "" "" Caucasian "" 9688 Frontal face 2022-02-26 00:48:15 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9689 male "" "" Caucasian "" 9689 Frontal face 2022-02-26 00:48:17 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9689 male "" "" Caucasian "" 9689 Frontal face 2022-02-26 00:48:17 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9690 male "" "" Caucasian "" 9690 Frontal face 2022-02-26 00:48:19 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9690 male "" "" Caucasian "" 9690 Frontal face 2022-02-26 00:48:19 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9691 male "" "" Caucasian "" 9691 Profile 2022-01-26 21:25:19 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6280 6280 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9691 male "" "" Caucasian "" 9691 Profile 2022-01-26 21:25:19 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 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Frontal face 2022-02-26 00:48:23 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6281 6281 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9694 male "" "" Caucasian "" 9694 Frontal face 2022-02-26 00:48:24 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6281 6281 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9694 male "" "" Caucasian "" 9694 Frontal face 2022-02-26 00:48:24 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6281 6281 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9695 male "" "" Caucasian "" 9695 Frontal face 2022-02-26 00:48:27 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6281 6281 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9695 male "" "" Caucasian "" 9695 Frontal face 2022-02-26 00:48:27 UTC 19455185 http://rdf.ncbi.nlm.nih.gov/pubmed/19455185 0 0 "" NANDO:2201291 MONDO:0011147 OMIM:601808 https://db.gestaltmatcher.org/patients/6157 6157 CHROMOSOME 18q DELETION SYNDROME https://db.gestaltmatcher.org/patients/image_9457 female "" "" European - Northwestern "" 9457 Profile 2022-01-17 08:25:46 UTC "" "" 5 3 "" NANDO:1200579 MONDO:0011147 OMIM:601808 https://db.gestaltmatcher.org/patients/6157 6157 CHROMOSOME 18q DELETION SYNDROME https://db.gestaltmatcher.org/patients/image_9457 female "" "" European - Northwestern "" 9457 Profile 2022-01-17 08:25:46 UTC "" "" 5 3 "" NANDO:2201291 MONDO:0011147 OMIM:601808 https://db.gestaltmatcher.org/patients/6157 6157 CHROMOSOME 18q DELETION SYNDROME https://db.gestaltmatcher.org/patients/image_9458 female "" "" European - Northwestern "" 9458 Frontal face 2022-02-26 00:43:57 UTC "" "" 5 3 "" NANDO:1200579 MONDO:0011147 OMIM:601808 https://db.gestaltmatcher.org/patients/6157 6157 CHROMOSOME 18q DELETION SYNDROME https://db.gestaltmatcher.org/patients/image_9458 female "" "" European - Northwestern "" 9458 Frontal face 2022-02-26 00:43:57 UTC "" "" 5 3 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/63 63 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_82 male "" "" "" Chinese 82 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 8 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/63 63 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_82 male "" "" "" Chinese 82 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 8 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6286 6286 ANGELMAN SYNDROME 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http://rdf.ncbi.nlm.nih.gov/pubmed/2466440 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6290 6290 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9703 unknown "" "" Caucasian "" 9703 Frontal face 2022-02-26 00:48:42 UTC 2466440 http://rdf.ncbi.nlm.nih.gov/pubmed/2466440 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6290 6290 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9703 unknown "" "" Caucasian "" 9703 Frontal face 2022-02-26 00:48:42 UTC 2466440 http://rdf.ncbi.nlm.nih.gov/pubmed/2466440 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6291 6291 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9704 unknown "" "" Caucasian "" 9704 Frontal face 2022-02-26 00:48:43 UTC 2466440 http://rdf.ncbi.nlm.nih.gov/pubmed/2466440 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6291 6291 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9704 unknown "" "" Caucasian "" 9704 Frontal face 2022-02-26 00:48:43 UTC 2466440 http://rdf.ncbi.nlm.nih.gov/pubmed/2466440 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6289 6289 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9705 male "" "" Caucasian "" 9705 Frontal face 2022-02-26 00:48:46 UTC 2466440 http://rdf.ncbi.nlm.nih.gov/pubmed/2466440 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6289 6289 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9705 male "" "" Caucasian "" 9705 Frontal face 2022-02-26 00:48:46 UTC 2466440 http://rdf.ncbi.nlm.nih.gov/pubmed/2466440 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6293 6293 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9706 male "" "" Caucasian "" 9706 Frontal face 2022-02-26 00:48:47 UTC 8494033 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https://db.gestaltmatcher.org/patients/image_9708 female "" "" Caucasian "" 9708 Frontal face 2022-02-26 00:48:51 UTC 7677166 http://rdf.ncbi.nlm.nih.gov/pubmed/7677166 50 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6294 6294 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9708 female "" "" Caucasian "" 9708 Frontal face 2022-02-26 00:48:51 UTC 7677166 http://rdf.ncbi.nlm.nih.gov/pubmed/7677166 50 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6295 6295 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9709 female "" "" Caucasian "" 9709 Frontal face 2022-02-26 00:48:54 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 26 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6295 6295 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9709 female "" "" Caucasian "" 9709 Frontal face 2022-02-26 00:48:54 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 26 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6295 6295 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9710 female "" "" Caucasian "" 9710 Profile 2022-01-28 22:11:54 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 26 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6295 6295 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9710 female "" "" Caucasian "" 9710 Profile 2022-01-28 22:11:54 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 26 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6296 6296 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9711 female "" "" Caucasian "" 9711 Frontal face 2022-02-26 00:48:55 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 33 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6296 6296 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9711 female "" "" Caucasian "" 9711 Frontal face 2022-02-26 00:48:55 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 33 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6296 6296 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9712 female "" "" Caucasian "" 9712 Profile 2022-01-28 22:23:09 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 33 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6296 6296 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9712 female "" "" Caucasian "" 9712 Profile 2022-01-28 22:23:09 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 33 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6297 6297 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9713 female "" "" Caucasian "" 9713 Frontal face 2022-02-26 00:48:57 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 20 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6297 6297 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9713 female "" "" Caucasian "" 9713 Frontal face 2022-02-26 00:48:57 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 20 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6297 6297 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9714 female "" "" Caucasian "" 9714 Profile 2022-01-28 22:31:40 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 20 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6297 6297 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9714 female "" "" Caucasian "" 9714 Profile 2022-01-28 22:31:40 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 20 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6298 6298 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9715 female "" "" Caucasian "" 9715 Frontal face 2022-02-26 00:48:58 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 11 6 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6298 6298 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9715 female "" "" Caucasian "" 9715 Frontal face 2022-02-26 00:48:58 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 11 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6298 6298 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9716 female "" "" Caucasian "" 9716 Profile 2023-01-01 14:45:50 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 11 6 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6298 6298 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9716 female "" "" Caucasian "" 9716 Profile 2023-01-01 14:45:50 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 11 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6299 6299 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9717 male "" "" Caucasian "" 9717 Frontal face 2022-02-26 00:49:02 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 17 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6299 6299 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9717 male "" "" Caucasian "" 9717 Frontal face 2022-02-26 00:49:02 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 17 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6299 6299 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9718 male "" "" Caucasian "" 9718 Profile 2022-01-28 22:46:31 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 17 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6299 6299 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9718 male "" "" Caucasian "" 9718 Profile 2022-01-28 22:46:31 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 17 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6300 6300 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9719 female "" "" Caucasian "" 9719 Frontal face 2022-02-26 00:49:05 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 21 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6300 6300 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9719 female "" "" Caucasian "" 9719 Frontal face 2022-02-26 00:49:05 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 21 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6300 6300 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9720 female "" "" Caucasian "" 9720 Profile 2022-01-28 22:54:21 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6300 6300 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9720 female "" "" Caucasian "" 9720 Profile 2022-01-28 22:54:21 UTC 7091188 http://rdf.ncbi.nlm.nih.gov/pubmed/7091188 0 0 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/637 637 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_810 male LMNA http://identifiers.org/ncbigene/4000 Caucasian U.S. 810 Frontal face 2022-02-25 16:25:14 UTC 4552697 http://rdf.ncbi.nlm.nih.gov/pubmed/4552697 6 7 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/637 637 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_810 male LMNA http://identifiers.org/ncbigene/4000 Caucasian U.S. 810 Frontal face 2022-02-25 16:25:14 UTC 4552697 http://rdf.ncbi.nlm.nih.gov/pubmed/4552697 6 7 "" NANDO:2200833 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/638 638 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_811 female LMNA http://identifiers.org/ncbigene/4000 Caucasian U.S. 811 Frontal face 2022-02-25 16:25:14 UTC 4552697 http://rdf.ncbi.nlm.nih.gov/pubmed/4552697 1 11 "" NANDO:1201007 MONDO:0008310 OMIM:176670 https://db.gestaltmatcher.org/patients/638 638 HUTCHINSON-GILFORD PROGERIA SYNDROME https://db.gestaltmatcher.org/patients/image_811 female LMNA http://identifiers.org/ncbigene/4000 Caucasian U.S. 811 Frontal face 2022-02-25 16:25:14 UTC 4552697 http://rdf.ncbi.nlm.nih.gov/pubmed/4552697 1 11 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6668 6668 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_10301 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 10301 Frontal face 2022-03-16 12:13:03 UTC 24448523 http://rdf.ncbi.nlm.nih.gov/pubmed/24448523 0 0 postoperative NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6669 6669 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_10303 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 10303 Frontal face 2022-03-16 12:13:57 UTC 24448523 http://rdf.ncbi.nlm.nih.gov/pubmed/24448523 0 8 postoperative NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/6477 6477 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_10000 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian "" 10000 Frontal face 2022-03-05 16:15:57 UTC 24602044 http://rdf.ncbi.nlm.nih.gov/pubmed/24602044 0 0 "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/6477 6477 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_10000 female RECQL3 http://identifiers.org/ncbigene/641 Caucasian "" 10000 Frontal face 2022-03-05 16:15:57 UTC 24602044 http://rdf.ncbi.nlm.nih.gov/pubmed/24602044 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6537 6537 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10082 female FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10082 Frontal face 2022-03-08 13:25:01 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6537 6537 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10082 female FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10082 Frontal face 2022-03-08 13:25:01 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6537 6537 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10083 female FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10083 Profile 2022-03-08 13:25:00 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6537 6537 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10083 female FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10083 Profile 2022-03-08 13:25:00 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6538 6538 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10084 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10084 Frontal face 2022-03-08 13:26:04 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6538 6538 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10084 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10084 Frontal face 2022-03-08 13:26:04 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6538 6538 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10085 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10085 Profile 2022-03-08 13:26:06 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6538 6538 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10085 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10085 Profile 2022-03-08 13:26:06 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6539 6539 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10086 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10086 Frontal face 2022-03-08 13:27:04 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6539 6539 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10086 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10086 Frontal face 2022-03-08 13:27:04 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6539 6539 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10087 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10087 Profile 2022-03-08 13:27:10 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6539 6539 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10087 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10087 Profile 2022-03-08 13:27:10 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6540 6540 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10088 female FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10088 Frontal face 2022-03-08 13:28:07 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6540 6540 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10088 female FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10088 Frontal face 2022-03-08 13:28:07 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6540 6540 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10089 female FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10089 Profile 2022-03-08 13:28:10 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6540 6540 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10089 female FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10089 Profile 2022-03-08 13:28:10 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6541 6541 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10090 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10090 Frontal face 2022-03-08 13:29:08 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6541 6541 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10090 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10090 Frontal face 2022-03-08 13:29:08 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6541 6541 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10091 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10091 Profile 2022-03-08 13:29:20 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/6541 6541 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_10091 male FGFR1 http://identifiers.org/ncbigene/2260 Caucasian, European "" 10091 Profile 2022-03-08 13:29:20 UTC 25251565 http://rdf.ncbi.nlm.nih.gov/pubmed/25251565 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/6560 6560 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_10125 female NSD1 http://identifiers.org/ncbigene/64324 Asian - East "" 10125 Frontal face 2022-03-08 15:00:56 UTC 24795065 http://rdf.ncbi.nlm.nih.gov/pubmed/24795065 0 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/6560 6560 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_10125 female NSD1 http://identifiers.org/ncbigene/64324 Asian - East "" 10125 Frontal face 2022-03-08 15:00:56 UTC 24795065 http://rdf.ncbi.nlm.nih.gov/pubmed/24795065 0 0 "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/6561 6561 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_10126 female NSD1 http://identifiers.org/ncbigene/64324 Asian - East "" 10126 Frontal face 2022-03-08 15:01:29 UTC 24795065 http://rdf.ncbi.nlm.nih.gov/pubmed/24795065 32 0 "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/6561 6561 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_10126 female NSD1 http://identifiers.org/ncbigene/64324 Asian - East "" 10126 Frontal face 2022-03-08 15:01:29 UTC 24795065 http://rdf.ncbi.nlm.nih.gov/pubmed/24795065 32 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6562 6562 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10127 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10127 Frontal face 2022-03-08 15:07:00 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6562 6562 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10127 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10127 Frontal face 2022-03-08 15:07:00 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6562 6562 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10128 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10128 Frontal face 2022-03-08 15:07:23 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6562 6562 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10128 male ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10128 Frontal face 2022-03-08 15:07:23 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6563 6563 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10129 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10129 Frontal face 2022-03-08 15:08:06 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6563 6563 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10129 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10129 Frontal face 2022-03-08 15:08:06 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6563 6563 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10130 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10130 Frontal face 2022-03-08 15:08:14 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6563 6563 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10130 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10130 Frontal face 2022-03-08 15:08:14 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6563 6563 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10131 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10131 Frontal face 2022-03-08 15:08:37 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 3 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6563 6563 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10131 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10131 Frontal face 2022-03-08 15:08:37 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 3 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6564 6564 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10132 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10132 Frontal face 2022-03-08 15:09:00 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6564 6564 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10132 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10132 Frontal face 2022-03-08 15:09:00 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6564 6564 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10133 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10133 Profile 2022-03-08 15:09:09 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6564 6564 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10133 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10133 Profile 2022-03-08 15:09:09 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6565 6565 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10134 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10134 Frontal face 2022-03-08 15:09:44 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6565 6565 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10134 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10134 Frontal face 2022-03-08 15:09:44 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6565 6565 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10135 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10135 Frontal face 2022-03-08 15:09:51 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/6565 6565 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_10135 female ZEB2 http://identifiers.org/ncbigene/9839 Caucasian "" 10135 Frontal face 2022-03-08 15:09:51 UTC 25123255 http://rdf.ncbi.nlm.nih.gov/pubmed/25123255 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10202 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10202 Frontal face 2022-03-11 16:17:12 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 17 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10202 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10202 Frontal face 2022-03-11 16:17:12 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 17 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10203 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10203 Profile 2022-03-11 16:17:15 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 17 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10203 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10203 Profile 2022-03-11 16:17:15 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 17 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10204 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10204 Frontal face 2022-03-11 16:17:35 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 17 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10204 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10204 Frontal face 2022-03-11 16:17:35 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 17 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10205 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10205 Frontal face 2022-03-11 16:17:46 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 0 5 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10205 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10205 Frontal face 2022-03-11 16:17:46 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 0 5 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10206 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10206 Frontal face 2022-03-11 16:17:59 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 12 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/6611 6611 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_10206 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 10206 Frontal face 2022-03-11 16:17:59 UTC 25027833 http://rdf.ncbi.nlm.nih.gov/pubmed/25027833 12 0 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6668 6668 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_10299 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 10299 Frontal face 2022-03-16 12:12:46 UTC 24448523 http://rdf.ncbi.nlm.nih.gov/pubmed/24448523 0 11 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6668 6668 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_10300 male TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 10300 Frontal face 2022-03-16 12:12:49 UTC 24448523 http://rdf.ncbi.nlm.nih.gov/pubmed/24448523 0 11 "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/6669 6669 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_10302 female TWIST1 http://identifiers.org/ncbigene/7291 Caucasian "" 10302 Frontal face 2022-03-16 12:13:37 UTC 24448523 http://rdf.ncbi.nlm.nih.gov/pubmed/24448523 0 1 "" NANDO:2201414 MONDO:0010476 OMIM:300894 https://db.gestaltmatcher.org/patients/6678 6678 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 https://db.gestaltmatcher.org/patients/image_10314 female WDR45 http://identifiers.org/ncbigene/11152 Asian - East "" 10314 Frontal face 2022-03-16 12:41:42 UTC 25263061 http://rdf.ncbi.nlm.nih.gov/pubmed/25263061 5 0 "" NANDO:1201150 MONDO:0010476 OMIM:300894 https://db.gestaltmatcher.org/patients/6678 6678 NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5 https://db.gestaltmatcher.org/patients/image_10314 female WDR45 http://identifiers.org/ncbigene/11152 Asian - East "" 10314 Frontal face 2022-03-16 12:41:42 UTC 25263061 http://rdf.ncbi.nlm.nih.gov/pubmed/25263061 5 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6710 6710 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10384 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 10384 Frontal face 2022-03-22 12:12:12 UTC 24311531 http://rdf.ncbi.nlm.nih.gov/pubmed/24311531 33 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6710 6710 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10385 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 10385 Profile 2022-03-22 12:12:18 UTC 24311531 http://rdf.ncbi.nlm.nih.gov/pubmed/24311531 33 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6764 6764 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10470 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10470 Frontal face 2022-03-24 10:24:13 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 1 7 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6765 6765 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10471 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10471 Frontal face 2022-03-24 10:25:42 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 1 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6766 6766 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10472 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10472 Frontal face 2022-03-24 10:25:39 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 1 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6767 6767 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10473 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10473 Frontal face 2022-03-24 10:26:23 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 6 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6768 6768 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10474 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10474 Frontal face 2022-03-24 10:26:56 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 1 3 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6769 6769 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10475 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10475 Frontal face 2022-03-24 10:27:30 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 2 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6770 6770 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10476 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10476 Frontal face 2022-03-24 10:28:00 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 2 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6771 6771 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10477 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10477 Frontal face 2022-03-24 10:28:34 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 7 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6772 6772 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10478 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10478 Frontal face 2022-03-24 10:29:17 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 9 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6773 6773 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10479 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10479 Frontal face 2022-03-24 10:30:01 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 1 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6772 6772 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10480 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10480 Frontal face 2022-03-24 10:33:34 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6772 6772 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10481 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10481 Frontal face 2022-03-24 10:33:44 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6772 6772 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10482 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10482 Frontal face 2022-03-24 10:33:57 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6766 6766 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10483 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10483 Frontal face 2022-03-24 10:34:08 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6766 6766 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10484 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10484 Frontal face 2022-03-24 10:34:21 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6766 6766 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10485 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10485 Frontal face 2022-03-24 10:34:24 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6765 6765 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10486 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10486 Frontal face 2022-03-24 10:34:42 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6765 6765 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10487 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10487 Frontal face 2022-03-24 10:34:55 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6765 6765 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10488 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10488 Frontal face 2022-03-24 10:34:58 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6771 6771 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10489 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10489 Frontal face 2022-03-24 10:37:19 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6771 6771 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10490 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10490 Frontal face 2022-03-24 10:37:31 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6771 6771 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10491 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10491 Frontal face 2022-03-24 10:37:35 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6774 6774 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10492 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10492 Frontal face 2022-03-24 10:38:22 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6774 6774 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10493 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10493 Frontal face 2022-03-24 10:38:36 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6774 6774 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10494 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10494 Frontal face 2022-03-24 10:38:48 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6774 6774 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10495 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10495 Frontal face 2022-03-24 10:39:00 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6773 6773 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10496 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10496 Frontal face 2022-03-24 10:39:22 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6773 6773 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10497 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10497 Frontal face 2022-03-24 10:39:33 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6773 6773 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10498 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10498 Frontal face 2022-03-24 10:39:46 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6769 6769 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10499 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10499 Frontal face 2022-03-24 10:42:19 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6770 6770 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10500 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10500 Frontal face 2022-03-24 10:42:33 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6775 6775 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10501 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10501 Frontal face 2022-03-24 10:43:16 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6775 6775 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10502 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10502 Profile 2022-03-24 10:43:23 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6775 6775 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10503 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10503 Frontal face 2022-03-24 10:43:37 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6775 6775 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10504 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10504 Frontal face 2022-03-24 10:43:50 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6767 6767 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10505 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10505 Frontal face 2022-03-24 10:44:03 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6767 6767 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10506 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10506 Frontal face 2022-03-24 10:44:17 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6767 6767 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10507 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10507 Frontal face 2022-03-24 10:44:30 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6768 6768 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10508 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10508 Frontal face 2022-03-24 10:48:14 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6768 6768 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10509 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10509 Profile 2022-03-24 10:48:24 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6768 6768 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10510 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10510 Frontal face 2022-03-24 10:48:37 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6776 6776 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10511 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10511 Frontal face 2022-03-24 10:50:01 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6776 6776 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10512 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10512 Frontal face 2022-03-24 10:50:04 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6776 6776 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10513 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10513 Frontal face 2022-03-24 10:50:11 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6776 6776 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10514 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10514 Frontal face 2022-03-24 10:50:24 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6777 6777 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10515 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10515 Frontal face 2022-03-24 10:51:08 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6777 6777 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10516 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10516 Frontal face 2022-03-24 10:51:08 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6778 6778 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10517 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10517 Frontal face 2022-03-24 10:51:42 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6778 6778 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10518 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10518 Profile 2022-03-24 10:51:56 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6764 6764 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10519 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10519 Frontal face 2022-03-24 10:53:45 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6764 6764 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10520 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10520 Frontal face 2022-03-24 10:53:52 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6773 6773 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10521 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10521 Frontal face 2022-03-24 10:54:15 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6779 6779 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10523 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10523 Frontal face 2022-03-24 10:56:19 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6779 6779 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10524 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10524 Frontal face 2022-03-24 10:56:32 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6779 6779 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10525 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10525 Frontal face 2022-03-24 10:56:35 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6780 6780 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10526 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10526 Frontal face 2022-03-24 10:57:03 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6780 6780 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10527 unknown VPS13B http://identifiers.org/ncbigene/157680 European "" 10527 Frontal face 2022-03-24 10:57:19 UTC 23188044 http://rdf.ncbi.nlm.nih.gov/pubmed/23188044 0 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6816 6816 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10579 male HRAS http://identifiers.org/ncbigene/3265 European "" 10579 Frontal face 2022-03-25 10:05:01 UTC 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 0 1 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6816 6816 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10579 male HRAS http://identifiers.org/ncbigene/3265 European "" 10579 Frontal face 2022-03-25 10:05:01 UTC 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 0 1 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/6817 6817 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_10580 female RAI1 http://identifiers.org/ncbigene/10743 Asian - East "" 10580 Frontal face 2022-03-25 10:10:55 UTC 22911601 http://rdf.ncbi.nlm.nih.gov/pubmed/22911601 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/6817 6817 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_10580 female RAI1 http://identifiers.org/ncbigene/10743 Asian - East "" 10580 Frontal face 2022-03-25 10:10:55 UTC 22911601 http://rdf.ncbi.nlm.nih.gov/pubmed/22911601 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/6817 6817 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_10581 female RAI1 http://identifiers.org/ncbigene/10743 Asian - East "" 10581 Profile 2022-03-25 10:11:01 UTC 22911601 http://rdf.ncbi.nlm.nih.gov/pubmed/22911601 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/6817 6817 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_10581 female RAI1 http://identifiers.org/ncbigene/10743 Asian - East "" 10581 Profile 2022-03-25 10:11:01 UTC 22911601 http://rdf.ncbi.nlm.nih.gov/pubmed/22911601 0 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6841 6841 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_10619 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European "" 10619 Frontal face 2022-03-25 10:48:42 UTC 22855652 http://rdf.ncbi.nlm.nih.gov/pubmed/22855652 2 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6353 6353 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9796 male UBE3A http://identifiers.org/ncbigene/7337 Asian - East "" 9796 Frontal face 2022-02-26 00:50:48 UTC 25099823 http://rdf.ncbi.nlm.nih.gov/pubmed/25099823 5 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6353 6353 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9796 male UBE3A http://identifiers.org/ncbigene/7337 Asian - East "" 9796 Frontal face 2022-02-26 00:50:48 UTC 25099823 http://rdf.ncbi.nlm.nih.gov/pubmed/25099823 5 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6354 6354 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9797 male UBE3A http://identifiers.org/ncbigene/7337 Asian - East "" 9797 Frontal face 2022-02-26 00:50:50 UTC 25099823 http://rdf.ncbi.nlm.nih.gov/pubmed/25099823 2 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6354 6354 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9797 male UBE3A http://identifiers.org/ncbigene/7337 Asian - East "" 9797 Frontal face 2022-02-26 00:50:50 UTC 25099823 http://rdf.ncbi.nlm.nih.gov/pubmed/25099823 2 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6355 6355 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9798 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9798 Frontal face 2022-02-26 00:50:51 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6355 6355 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9798 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9798 Frontal face 2022-02-26 00:50:51 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6356 6356 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9799 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9799 Frontal face 2022-02-26 00:50:54 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6356 6356 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9799 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9799 Frontal face 2022-02-26 00:50:54 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6357 6357 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9800 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9800 Frontal face 2022-02-26 00:50:55 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6357 6357 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9800 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9800 Frontal face 2022-02-26 00:50:55 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6358 6358 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9801 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9801 Frontal face 2022-02-26 00:50:58 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6358 6358 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9801 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9801 Frontal face 2022-02-26 00:50:58 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6359 6359 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9802 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9802 Frontal face 2022-02-26 00:50:59 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6359 6359 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9802 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9802 Frontal face 2022-02-26 00:50:59 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6360 6360 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9803 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9803 Frontal face 2022-02-26 00:51:02 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6360 6360 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9803 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9803 Frontal face 2022-02-26 00:51:02 UTC 32889787 http://rdf.ncbi.nlm.nih.gov/pubmed/32889787 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6361 6361 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9804 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9804 Frontal face 2022-02-26 00:51:02 UTC 18487518 http://rdf.ncbi.nlm.nih.gov/pubmed/18487518 1 4 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6361 6361 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9804 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9804 Frontal face 2022-02-26 00:51:02 UTC 18487518 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http://rdf.ncbi.nlm.nih.gov/pubmed/32652832 4 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6362 6362 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9811 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9811 Frontal face 2022-02-26 00:51:06 UTC 32652832 http://rdf.ncbi.nlm.nih.gov/pubmed/32652832 4 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6362 6362 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9812 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9812 Frontal face 2022-02-26 00:51:09 UTC 32652832 http://rdf.ncbi.nlm.nih.gov/pubmed/32652832 13 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6362 6362 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9812 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9812 Frontal face 2022-02-26 00:51:09 UTC 32652832 http://rdf.ncbi.nlm.nih.gov/pubmed/32652832 13 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6363 6363 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9813 male UBE3A http://identifiers.org/ncbigene/7337 Asian - East "" 9813 Frontal face 2022-02-26 00:51:10 UTC 28898887 http://rdf.ncbi.nlm.nih.gov/pubmed/28898887 2 6 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6363 6363 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9813 male UBE3A http://identifiers.org/ncbigene/7337 Asian - East "" 9813 Frontal face 2022-02-26 00:51:10 UTC 28898887 http://rdf.ncbi.nlm.nih.gov/pubmed/28898887 2 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6363 6363 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9814 male UBE3A http://identifiers.org/ncbigene/7337 Asian - East "" 9814 Limbs 2022-02-10 18:04:10 UTC 28898887 http://rdf.ncbi.nlm.nih.gov/pubmed/28898887 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6363 6363 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9814 male UBE3A http://identifiers.org/ncbigene/7337 Asian - East "" 9814 Limbs 2022-02-10 18:04:10 UTC 28898887 http://rdf.ncbi.nlm.nih.gov/pubmed/28898887 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6364 6364 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9815 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9815 Frontal face 2022-02-26 00:51:13 UTC 28211971 http://rdf.ncbi.nlm.nih.gov/pubmed/28211971 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6364 6364 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9815 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9815 Frontal face 2022-02-26 00:51:13 UTC 28211971 http://rdf.ncbi.nlm.nih.gov/pubmed/28211971 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6365 6365 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9816 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9816 Frontal face 2022-02-26 00:51:14 UTC 21397058 http://rdf.ncbi.nlm.nih.gov/pubmed/21397058 10 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6365 6365 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9816 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9816 Frontal face 2022-02-26 00:51:14 UTC 21397058 http://rdf.ncbi.nlm.nih.gov/pubmed/21397058 10 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6365 6365 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9817 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9817 Profile 2022-02-10 18:11:17 UTC 21397058 http://rdf.ncbi.nlm.nih.gov/pubmed/21397058 10 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6365 6365 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9817 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9817 Profile 2022-02-10 18:11:17 UTC 21397058 http://rdf.ncbi.nlm.nih.gov/pubmed/21397058 10 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6365 6365 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9818 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9818 Limbs 2022-02-10 18:11:31 UTC 21397058 http://rdf.ncbi.nlm.nih.gov/pubmed/21397058 10 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6365 6365 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9818 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9818 Limbs 2022-02-10 18:11:31 UTC 21397058 http://rdf.ncbi.nlm.nih.gov/pubmed/21397058 10 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6366 6366 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9819 male UBE3A http://identifiers.org/ncbigene/7337 American - Latin/Hispanic "" 9819 Frontal face 2022-02-26 00:51:17 UTC 23256887 http://rdf.ncbi.nlm.nih.gov/pubmed/23256887 14 8 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6366 6366 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9819 male UBE3A http://identifiers.org/ncbigene/7337 American - Latin/Hispanic "" 9819 Frontal face 2022-02-26 00:51:17 UTC 23256887 http://rdf.ncbi.nlm.nih.gov/pubmed/23256887 14 8 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6367 6367 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9820 female UBE3A http://identifiers.org/ncbigene/7337 American - Latin/Hispanic "" 9820 Frontal face 2022-02-26 00:51:18 UTC 23256887 http://rdf.ncbi.nlm.nih.gov/pubmed/23256887 6 3 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6367 6367 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9820 female UBE3A http://identifiers.org/ncbigene/7337 American - Latin/Hispanic "" 9820 Frontal face 2022-02-26 00:51:18 UTC 23256887 http://rdf.ncbi.nlm.nih.gov/pubmed/23256887 6 3 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6368 6368 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9821 female UBE3A http://identifiers.org/ncbigene/7337 African - Sub-Saharan "" 9821 Frontal face 2022-02-26 00:51:21 UTC 32341813 http://rdf.ncbi.nlm.nih.gov/pubmed/32341813 5 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6368 6368 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9821 female UBE3A http://identifiers.org/ncbigene/7337 African - Sub-Saharan "" 9821 Frontal face 2022-02-26 00:51:21 UTC 32341813 http://rdf.ncbi.nlm.nih.gov/pubmed/32341813 5 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6368 6368 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9822 female UBE3A http://identifiers.org/ncbigene/7337 African - Sub-Saharan "" 9822 Frontal face 2022-02-26 00:51:21 UTC 32341813 http://rdf.ncbi.nlm.nih.gov/pubmed/32341813 2 6 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6368 6368 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9822 female UBE3A http://identifiers.org/ncbigene/7337 African - Sub-Saharan "" 9822 Frontal face 2022-02-26 00:51:21 UTC 32341813 http://rdf.ncbi.nlm.nih.gov/pubmed/32341813 2 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6368 6368 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9823 female UBE3A http://identifiers.org/ncbigene/7337 African - Sub-Saharan "" 9823 Frontal face 2022-02-26 00:51:24 UTC 32341813 http://rdf.ncbi.nlm.nih.gov/pubmed/32341813 7 6 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6368 6368 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9823 female UBE3A http://identifiers.org/ncbigene/7337 African - Sub-Saharan "" 9823 Frontal face 2022-02-26 00:51:24 UTC 32341813 http://rdf.ncbi.nlm.nih.gov/pubmed/32341813 7 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6369 6369 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9824 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9824 Frontal face 2022-02-26 00:51:25 UTC 22065487 http://rdf.ncbi.nlm.nih.gov/pubmed/22065487 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6369 6369 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9824 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9824 Frontal face 2022-02-26 00:51:25 UTC 22065487 http://rdf.ncbi.nlm.nih.gov/pubmed/22065487 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6369 6369 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9825 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9825 Frontal face 2022-02-26 00:51:28 UTC 22065487 http://rdf.ncbi.nlm.nih.gov/pubmed/22065487 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6369 6369 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9825 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9825 Frontal face 2022-02-26 00:51:28 UTC 22065487 http://rdf.ncbi.nlm.nih.gov/pubmed/22065487 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6370 6370 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9826 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9826 Frontal face 2022-02-26 00:51:29 UTC 22065487 http://rdf.ncbi.nlm.nih.gov/pubmed/22065487 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6370 6370 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9826 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9826 Frontal face 2022-02-26 00:51:29 UTC 22065487 http://rdf.ncbi.nlm.nih.gov/pubmed/22065487 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6370 6370 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9827 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9827 Profile 2022-02-10 18:33:34 UTC 22065487 http://rdf.ncbi.nlm.nih.gov/pubmed/22065487 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6370 6370 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9827 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9827 Profile 2022-02-10 18:33:34 UTC 22065487 http://rdf.ncbi.nlm.nih.gov/pubmed/22065487 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6371 6371 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9828 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9828 Frontal face 2022-02-26 00:51:32 UTC 17036311 http://rdf.ncbi.nlm.nih.gov/pubmed/17036311 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6371 6371 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9828 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9828 Frontal face 2022-02-26 00:51:32 UTC 17036311 http://rdf.ncbi.nlm.nih.gov/pubmed/17036311 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6372 6372 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9829 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9829 Frontal face 2022-02-26 00:51:33 UTC 17036311 http://rdf.ncbi.nlm.nih.gov/pubmed/17036311 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6372 6372 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9829 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9829 Frontal face 2022-02-26 00:51:33 UTC 17036311 http://rdf.ncbi.nlm.nih.gov/pubmed/17036311 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6373 6373 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9830 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9830 Frontal face 2022-02-26 00:51:36 UTC 28318193 http://rdf.ncbi.nlm.nih.gov/pubmed/28318193 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6373 6373 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9830 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9830 Frontal face 2022-02-26 00:51:36 UTC 28318193 http://rdf.ncbi.nlm.nih.gov/pubmed/28318193 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6375 6375 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9832 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9832 Frontal face 2022-02-26 00:51:40 UTC 9321755 http://rdf.ncbi.nlm.nih.gov/pubmed/9321755 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6375 6375 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9832 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9832 Frontal face 2022-02-26 00:51:40 UTC 9321755 http://rdf.ncbi.nlm.nih.gov/pubmed/9321755 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6376 6376 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9833 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9833 Frontal face 2022-02-26 00:51:40 UTC 9321755 http://rdf.ncbi.nlm.nih.gov/pubmed/9321755 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6376 6376 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9833 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9833 Frontal face 2022-02-26 00:51:40 UTC 9321755 http://rdf.ncbi.nlm.nih.gov/pubmed/9321755 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6377 6377 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9834 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9834 Frontal face 2022-02-26 00:51:43 UTC 9321755 http://rdf.ncbi.nlm.nih.gov/pubmed/9321755 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6377 6377 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9834 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9834 Frontal face 2022-02-26 00:51:43 UTC 9321755 http://rdf.ncbi.nlm.nih.gov/pubmed/9321755 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6381 6381 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9838 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9838 Frontal face 2022-02-26 00:51:51 UTC 25899869 http://rdf.ncbi.nlm.nih.gov/pubmed/25899869 4 11 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6381 6381 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9838 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9838 Frontal face 2022-02-26 00:51:51 UTC 25899869 http://rdf.ncbi.nlm.nih.gov/pubmed/25899869 4 11 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6383 6383 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9839 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9839 Frontal face 2022-02-26 00:51:52 UTC 30016768 http://rdf.ncbi.nlm.nih.gov/pubmed/30016768 2 1 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6383 6383 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9839 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9839 Frontal face 2022-02-26 00:51:52 UTC 30016768 http://rdf.ncbi.nlm.nih.gov/pubmed/30016768 2 1 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6383 6383 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9840 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9840 Frontal face 2022-02-26 00:51:55 UTC 30016768 http://rdf.ncbi.nlm.nih.gov/pubmed/30016768 2 8 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6383 6383 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9840 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9840 Frontal face 2022-02-26 00:51:55 UTC 30016768 http://rdf.ncbi.nlm.nih.gov/pubmed/30016768 2 8 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6384 6384 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9841 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9841 Frontal face 2022-02-26 00:51:56 UTC 29737008 http://rdf.ncbi.nlm.nih.gov/pubmed/29737008 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6384 6384 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9841 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9841 Frontal face 2022-02-26 00:51:56 UTC 29737008 http://rdf.ncbi.nlm.nih.gov/pubmed/29737008 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6385 6385 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9842 male UBE3A http://identifiers.org/ncbigene/7337 American - African/Black "" 9842 Frontal face 2022-02-26 00:51:58 UTC 12749060 http://rdf.ncbi.nlm.nih.gov/pubmed/12749060 2 6 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6385 6385 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9842 male UBE3A http://identifiers.org/ncbigene/7337 American - African/Black "" 9842 Frontal face 2022-02-26 00:51:58 UTC 12749060 http://rdf.ncbi.nlm.nih.gov/pubmed/12749060 2 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6385 6385 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9843 male UBE3A http://identifiers.org/ncbigene/7337 American - African/Black "" 9843 Frontal face 2022-02-26 00:52:00 UTC 12749060 http://rdf.ncbi.nlm.nih.gov/pubmed/12749060 7 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6385 6385 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9843 male UBE3A http://identifiers.org/ncbigene/7337 American - African/Black "" 9843 Frontal face 2022-02-26 00:52:00 UTC 12749060 http://rdf.ncbi.nlm.nih.gov/pubmed/12749060 7 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6386 6386 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9844 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9844 Frontal face 2022-02-26 00:52:02 UTC 20933619 http://rdf.ncbi.nlm.nih.gov/pubmed/20933619 2 3 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6386 6386 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9844 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9844 Frontal face 2022-02-26 00:52:02 UTC 20933619 http://rdf.ncbi.nlm.nih.gov/pubmed/20933619 2 3 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6386 6386 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9845 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9845 Frontal face 2022-02-26 00:52:03 UTC 20933619 http://rdf.ncbi.nlm.nih.gov/pubmed/20933619 3 3 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6386 6386 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9845 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9845 Frontal face 2022-02-26 00:52:03 UTC 20933619 http://rdf.ncbi.nlm.nih.gov/pubmed/20933619 3 3 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6387 6387 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9846 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9846 Frontal face 2022-02-26 00:52:06 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6387 6387 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9846 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9846 Frontal face 2022-02-26 00:52:06 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6388 6388 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9847 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9847 Frontal face 2022-02-26 00:52:07 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6388 6388 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9847 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9847 Frontal face 2022-02-26 00:52:07 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6389 6389 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9848 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9848 Frontal face 2022-02-26 00:52:10 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6389 6389 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9848 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9848 Frontal face 2022-02-26 00:52:10 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6390 6390 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9849 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9849 Frontal face 2022-02-26 00:52:11 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6390 6390 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9849 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9849 Frontal face 2022-02-26 00:52:11 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6391 6391 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9850 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9850 Frontal face 2022-02-26 00:52:13 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6391 6391 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9850 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9850 Frontal face 2022-02-26 00:52:13 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6391 6391 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9851 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9851 Profile 2022-02-14 14:47:38 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6391 6391 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9851 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9851 Profile 2022-02-14 14:47:38 UTC 20301323 http://rdf.ncbi.nlm.nih.gov/pubmed/20301323 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6392 6392 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9852 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9852 Frontal face 2022-02-26 00:52:14 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6392 6392 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9852 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9852 Frontal face 2022-02-26 00:52:14 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6393 6393 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9853 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9853 Frontal face 2022-02-26 00:52:17 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6393 6393 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9853 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9853 Frontal face 2022-02-26 00:52:17 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6394 6394 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9854 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9854 Frontal face 2022-02-26 00:52:18 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6394 6394 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9854 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9854 Frontal face 2022-02-26 00:52:18 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6395 6395 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9855 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9855 Frontal face 2022-02-26 00:52:21 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6395 6395 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9855 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9855 Frontal face 2022-02-26 00:52:21 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6396 6396 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9856 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9856 Frontal face 2022-02-26 00:52:22 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6396 6396 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9856 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9856 Frontal face 2022-02-26 00:52:22 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6397 6397 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9857 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9857 Frontal face 2022-02-26 00:52:24 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6397 6397 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9857 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9857 Frontal face 2022-02-26 00:52:24 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6398 6398 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9858 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9858 Frontal face 2022-02-26 00:52:26 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6398 6398 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9858 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9858 Frontal face 2022-02-26 00:52:26 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6399 6399 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9859 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9859 Frontal face 2022-02-26 00:52:28 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6399 6399 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9859 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9859 Frontal face 2022-02-26 00:52:28 UTC 10424818 http://rdf.ncbi.nlm.nih.gov/pubmed/10424818 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6405 6405 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9865 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9865 Frontal face 2022-02-26 00:52:40 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6405 6405 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9865 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9865 Frontal face 2022-02-26 00:52:40 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6406 6406 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9866 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9866 Frontal face 2022-02-26 00:52:41 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6406 6406 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9866 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9866 Frontal face 2022-02-26 00:52:41 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6407 6407 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9867 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9867 Frontal face 2022-02-26 00:52:44 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6407 6407 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9867 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9867 Frontal face 2022-02-26 00:52:44 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6408 6408 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9868 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9868 Frontal face 2022-02-26 00:52:45 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6408 6408 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9868 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9868 Frontal face 2022-02-26 00:52:45 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6409 6409 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9869 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9869 Frontal face 2022-02-26 00:52:47 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6409 6409 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9869 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9869 Frontal face 2022-02-26 00:52:47 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6410 6410 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9870 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9870 Frontal face 2022-02-26 00:52:48 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6410 6410 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9870 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9870 Frontal face 2022-02-26 00:52:48 UTC 10196695 http://rdf.ncbi.nlm.nih.gov/pubmed/10196695 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6411 6411 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9871 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9871 Frontal face 2022-02-26 00:52:51 UTC 11701647 http://rdf.ncbi.nlm.nih.gov/pubmed/11701647 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6411 6411 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9871 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9871 Frontal face 2022-02-26 00:52:51 UTC 11701647 http://rdf.ncbi.nlm.nih.gov/pubmed/11701647 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6418 6418 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9881 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9881 Frontal face 2022-02-28 18:04:08 UTC 17095305 http://rdf.ncbi.nlm.nih.gov/pubmed/17095305 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6418 6418 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9881 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9881 Frontal face 2022-02-28 18:04:08 UTC 17095305 http://rdf.ncbi.nlm.nih.gov/pubmed/17095305 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6419 6419 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9882 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9882 Frontal face 2022-02-28 18:09:01 UTC 17980307 http://rdf.ncbi.nlm.nih.gov/pubmed/17980307 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6419 6419 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9882 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9882 Frontal face 2022-02-28 18:09:01 UTC 17980307 http://rdf.ncbi.nlm.nih.gov/pubmed/17980307 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6420 6420 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9883 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9883 Frontal face 2022-02-28 18:12:05 UTC 19874386 http://rdf.ncbi.nlm.nih.gov/pubmed/19874386 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6420 6420 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9883 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9883 Frontal face 2022-02-28 18:12:05 UTC 19874386 http://rdf.ncbi.nlm.nih.gov/pubmed/19874386 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6426 6426 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9890 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9890 Frontal face 2022-02-28 18:22:40 UTC 20398390 http://rdf.ncbi.nlm.nih.gov/pubmed/20398390 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6426 6426 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9890 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9890 Frontal face 2022-02-28 18:22:40 UTC 20398390 http://rdf.ncbi.nlm.nih.gov/pubmed/20398390 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6427 6427 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9891 male TCF4 http://identifiers.org/ncbigene/6925 American - Latin/Hispanic "" 9891 Frontal face 2022-02-28 18:26:43 UTC 20184619 http://rdf.ncbi.nlm.nih.gov/pubmed/20184619 4 8 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6427 6427 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9891 male TCF4 http://identifiers.org/ncbigene/6925 American - Latin/Hispanic "" 9891 Frontal face 2022-02-28 18:26:43 UTC 20184619 http://rdf.ncbi.nlm.nih.gov/pubmed/20184619 4 8 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6427 6427 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9892 male TCF4 http://identifiers.org/ncbigene/6925 American - Latin/Hispanic "" 9892 Frontal face 2022-02-28 18:28:57 UTC 20184619 http://rdf.ncbi.nlm.nih.gov/pubmed/20184619 7 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6427 6427 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9892 male TCF4 http://identifiers.org/ncbigene/6925 American - Latin/Hispanic "" 9892 Frontal face 2022-02-28 18:28:57 UTC 20184619 http://rdf.ncbi.nlm.nih.gov/pubmed/20184619 7 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6427 6427 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9893 male TCF4 http://identifiers.org/ncbigene/6925 American - Latin/Hispanic "" 9893 Frontal face 2022-02-28 18:29:00 UTC 20184619 http://rdf.ncbi.nlm.nih.gov/pubmed/20184619 2 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6427 6427 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9893 male TCF4 http://identifiers.org/ncbigene/6925 American - Latin/Hispanic "" 9893 Frontal face 2022-02-28 18:29:00 UTC 20184619 http://rdf.ncbi.nlm.nih.gov/pubmed/20184619 2 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6428 6428 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9894 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9894 Frontal face 2022-02-28 18:34:44 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6428 6428 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9894 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9894 Frontal face 2022-02-28 18:34:44 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6430 6430 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9896 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9896 Profile 2022-02-28 18:36:16 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6430 6430 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9896 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9896 Profile 2022-02-28 18:36:16 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6432 6432 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9898 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9898 Frontal face 2022-02-28 18:38:01 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6432 6432 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9898 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9898 Frontal face 2022-02-28 18:38:01 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6433 6433 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9899 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9899 Frontal face 2022-02-28 18:38:32 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6433 6433 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9899 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9899 Frontal face 2022-02-28 18:38:32 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6434 6434 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9900 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9900 Frontal face 2022-02-28 18:38:55 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6434 6434 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9900 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9900 Frontal face 2022-02-28 18:38:55 UTC 22670133 http://rdf.ncbi.nlm.nih.gov/pubmed/22670133 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6435 6435 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9911 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9911 Frontal face 2022-03-01 22:37:50 UTC 24790661 http://rdf.ncbi.nlm.nih.gov/pubmed/24790661 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6435 6435 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9911 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9911 Frontal face 2022-03-01 22:37:50 UTC 24790661 http://rdf.ncbi.nlm.nih.gov/pubmed/24790661 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6436 6436 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9912 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian, European "" 9912 Frontal face 2022-03-01 22:41:20 UTC 24311297 http://rdf.ncbi.nlm.nih.gov/pubmed/24311297 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6436 6436 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9912 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian, European "" 9912 Frontal face 2022-03-01 22:41:20 UTC 24311297 http://rdf.ncbi.nlm.nih.gov/pubmed/24311297 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6436 6436 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9913 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian, European "" 9913 Frontal face 2022-03-01 22:41:33 UTC 24311297 http://rdf.ncbi.nlm.nih.gov/pubmed/24311297 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6436 6436 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9913 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian, European "" 9913 Frontal face 2022-03-01 22:41:33 UTC 24311297 http://rdf.ncbi.nlm.nih.gov/pubmed/24311297 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6437 6437 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9914 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian, European "" 9914 Frontal face 2022-03-01 22:42:33 UTC 24311297 http://rdf.ncbi.nlm.nih.gov/pubmed/24311297 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6437 6437 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9914 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian, European "" 9914 Frontal face 2022-03-01 22:42:33 UTC 24311297 http://rdf.ncbi.nlm.nih.gov/pubmed/24311297 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6437 6437 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9915 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian, European "" 9915 Frontal face 2022-03-01 22:42:47 UTC 24311297 http://rdf.ncbi.nlm.nih.gov/pubmed/24311297 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6437 6437 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9915 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian, European "" 9915 Frontal face 2022-03-01 22:42:47 UTC 24311297 http://rdf.ncbi.nlm.nih.gov/pubmed/24311297 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6438 6438 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9916 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9916 Frontal face 2022-03-01 22:48:27 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6438 6438 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9916 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9916 Frontal face 2022-03-01 22:48:27 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6439 6439 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9917 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9917 Frontal face 2022-03-01 22:49:10 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6439 6439 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9917 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9917 Frontal face 2022-03-01 22:49:10 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6440 6440 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9918 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9918 Frontal face 2022-03-01 22:49:44 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6440 6440 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9918 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9918 Frontal face 2022-03-01 22:49:44 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6441 6441 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9919 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9919 Frontal face 2022-03-01 22:50:58 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6441 6441 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9919 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9919 Frontal face 2022-03-01 22:50:58 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6442 6442 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9920 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9920 Frontal face 2022-03-01 22:51:20 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6442 6442 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9920 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9920 Frontal face 2022-03-01 22:51:20 UTC 10482951 http://rdf.ncbi.nlm.nih.gov/pubmed/10482951 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6443 6443 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9921 female UBE3A http://identifiers.org/ncbigene/7337 American - Latin/Hispanic "" 9921 Frontal face 2022-03-01 22:55:44 UTC 15150776 http://rdf.ncbi.nlm.nih.gov/pubmed/15150776 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6443 6443 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9921 female UBE3A http://identifiers.org/ncbigene/7337 American - Latin/Hispanic "" 9921 Frontal face 2022-03-01 22:55:44 UTC 15150776 http://rdf.ncbi.nlm.nih.gov/pubmed/15150776 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6444 6444 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9922 male UBE3A http://identifiers.org/ncbigene/7337 American - Latin/Hispanic "" 9922 Frontal face 2022-03-01 22:56:38 UTC 15150776 http://rdf.ncbi.nlm.nih.gov/pubmed/15150776 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6444 6444 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9922 male UBE3A http://identifiers.org/ncbigene/7337 American - Latin/Hispanic "" 9922 Frontal face 2022-03-01 22:56:38 UTC 15150776 http://rdf.ncbi.nlm.nih.gov/pubmed/15150776 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6445 6445 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9923 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9923 Frontal face 2022-03-01 23:00:11 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 7 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6445 6445 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9923 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9923 Frontal face 2022-03-01 23:00:11 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 7 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6446 6446 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9924 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9924 Frontal face 2022-03-01 23:00:51 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 5 4 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6446 6446 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9924 male UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9924 Frontal face 2022-03-01 23:00:51 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 5 4 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6447 6447 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9925 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9925 Frontal face 2022-03-01 23:01:25 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 2 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6447 6447 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9925 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9925 Frontal face 2022-03-01 23:01:25 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 2 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6448 6448 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9926 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9926 Frontal face 2022-03-01 23:01:48 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 3 10 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6448 6448 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9926 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9926 Frontal face 2022-03-01 23:01:48 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 3 10 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6449 6449 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9927 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9927 Frontal face 2022-03-01 23:02:22 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 2 10 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6449 6449 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9927 unknown UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9927 Frontal face 2022-03-01 23:02:22 UTC 10861661 http://rdf.ncbi.nlm.nih.gov/pubmed/10861661 2 10 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6450 6450 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9928 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9928 Frontal face 2022-03-01 23:08:05 UTC 12124736 http://rdf.ncbi.nlm.nih.gov/pubmed/12124736 2 6 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6450 6450 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9928 female UBE3A http://identifiers.org/ncbigene/7337 Caucasian "" 9928 Frontal face 2022-03-01 23:08:05 UTC 12124736 http://rdf.ncbi.nlm.nih.gov/pubmed/12124736 2 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6454 6454 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9938 male UBE3A http://identifiers.org/ncbigene/7337 Asian - South/Indian "" 9938 Frontal face 2022-03-01 23:17:03 UTC 27247589 http://rdf.ncbi.nlm.nih.gov/pubmed/27247589 8 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6454 6454 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9938 male UBE3A http://identifiers.org/ncbigene/7337 Asian - South/Indian "" 9938 Frontal face 2022-03-01 23:17:03 UTC 27247589 http://rdf.ncbi.nlm.nih.gov/pubmed/27247589 8 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/6457 6457 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_9943 male ICR1 http://identifiers.org/ncbigene/105259599 Caucasian, European "" 9943 Frontal face 2022-03-02 10:08:11 UTC 25943194 http://rdf.ncbi.nlm.nih.gov/pubmed/25943194 0 0 "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/6457 6457 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_9944 male ICR1 http://identifiers.org/ncbigene/105259599 Caucasian, European "" 9944 Profile 2022-03-02 10:08:18 UTC 25943194 http://rdf.ncbi.nlm.nih.gov/pubmed/25943194 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6865 6865 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10738 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10738 Others 2022-04-11 07:54:25 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6865 6865 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10739 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10739 Lab results (genetic testing) 2022-04-11 07:55:12 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6865 6865 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10740 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10740 Profile 2022-04-11 07:55:39 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6865 6865 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10741 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10741 Profile 2022-04-11 07:56:04 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6865 6865 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10742 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10742 Others 2022-04-11 07:56:24 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6862 6862 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11059 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11059 Frontal face 2022-05-02 08:46:34 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6862 6862 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11060 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11060 Frontal face 2022-05-02 08:47:05 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6862 6862 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11061 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11061 Frontal face 2022-05-02 08:47:18 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6862 6862 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11062 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11062 Frontal face 2022-05-02 08:47:38 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6862 6862 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11063 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11063 Frontal face 2022-05-02 08:47:58 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6864 6864 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11194 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11194 Frontal face 2022-05-15 17:53:31 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6864 6864 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11195 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11195 Frontal face 2022-05-15 17:53:40 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6864 6864 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11196 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11196 Frontal face 2022-05-15 17:53:52 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6864 6864 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11197 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11197 Frontal face 2022-05-15 17:53:54 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11237 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11237 Frontal face 2022-05-17 10:31:47 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11238 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11238 Frontal face 2022-05-17 10:32:39 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11239 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11239 Frontal face 2022-05-17 10:33:01 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11240 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11240 Frontal face 2022-05-17 10:33:19 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11241 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11241 Frontal face 2022-05-18 03:47:53 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11242 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11242 Frontal face 2022-05-17 10:33:45 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11243 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11243 Frontal face 2022-05-17 10:33:58 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11244 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11244 Frontal face 2022-05-17 10:34:12 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11245 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11245 Frontal face 2022-05-17 10:34:26 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11246 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11246 Frontal face 2022-05-17 10:34:39 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11247 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11247 Frontal face 2022-05-17 10:34:52 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11248 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11248 Frontal face 2022-05-17 10:34:56 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11249 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11249 Profile 2023-05-19 12:10:42 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11250 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11250 Frontal face 2022-05-17 10:35:43 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11251 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11251 Frontal face 2022-05-17 10:35:53 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11252 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11252 Frontal face 2022-05-17 10:36:03 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11253 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11253 Frontal face 2022-05-17 10:36:16 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11254 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11254 Frontal face 2022-05-17 10:36:26 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11255 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11255 Frontal face 2022-05-17 10:36:40 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11256 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11256 Frontal face 2022-05-17 10:37:10 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11257 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11257 Frontal face 2022-05-17 10:37:23 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6863 6863 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11258 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11258 Frontal face 2022-05-17 10:37:33 UTC "" "" 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/64 64 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_83 male "" "" "" Indian 83 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 12 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/64 64 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_83 male "" "" "" Indian 83 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 12 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/65 65 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_84 male "" "" "" New Zealand 84 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/65 65 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_84 male "" "" "" New Zealand 84 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/65 65 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_85 male "" "" "" New Zealand 85 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/65 65 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_85 male "" "" "" New Zealand 85 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 11 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/67 67 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_87 female "" "" "" American 87 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 6 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/67 67 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_87 female "" "" "" American 87 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 6 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6848 6848 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_11058 male "" "" Caucasian "" 11058 Frontal face 2022-05-01 13:47:42 UTC "" "" 17 0 at 17 th birthday NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6848 6848 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_11058 male "" "" Caucasian "" 11058 Frontal face 2022-05-01 13:47:42 UTC "" "" 17 0 at 17 th birthday NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/6482 6482 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_10005 male "" "" American - Latin/Hispanic "" 10005 Frontal face 2022-03-05 16:27:17 UTC 27625870 http://rdf.ncbi.nlm.nih.gov/pubmed/27625870 0 0 "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/6482 6482 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_10006 male "" "" American - Latin/Hispanic "" 10006 Frontal face 2022-03-05 16:27:30 UTC 27625870 http://rdf.ncbi.nlm.nih.gov/pubmed/27625870 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6484 6484 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10008 male "" "" Caucasian "" 10008 Frontal face 2022-03-05 16:41:12 UTC 24839169 http://rdf.ncbi.nlm.nih.gov/pubmed/24839169 25 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6484 6484 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10008 male "" "" Caucasian "" 10008 Frontal face 2022-03-05 16:41:12 UTC 24839169 http://rdf.ncbi.nlm.nih.gov/pubmed/24839169 25 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6485 6485 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10009 male "" "" Caucasian "" 10009 Frontal face 2022-03-05 16:41:48 UTC 24839169 http://rdf.ncbi.nlm.nih.gov/pubmed/24839169 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6485 6485 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10009 male "" "" Caucasian "" 10009 Frontal face 2022-03-05 16:41:48 UTC 24839169 http://rdf.ncbi.nlm.nih.gov/pubmed/24839169 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6486 6486 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10010 unknown "" "" Caucasian "" 10010 Frontal face 2022-03-05 16:42:41 UTC 24839169 http://rdf.ncbi.nlm.nih.gov/pubmed/24839169 14 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6486 6486 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10010 unknown "" "" Caucasian "" 10010 Frontal face 2022-03-05 16:42:41 UTC 24839169 http://rdf.ncbi.nlm.nih.gov/pubmed/24839169 14 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6487 6487 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10011 male "" "" Caucasian "" 10011 Frontal face 2022-03-05 16:43:15 UTC 24839169 http://rdf.ncbi.nlm.nih.gov/pubmed/24839169 18 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6487 6487 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10011 male "" "" Caucasian "" 10011 Frontal face 2022-03-05 16:43:15 UTC 24839169 http://rdf.ncbi.nlm.nih.gov/pubmed/24839169 18 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6586 6586 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10165 male "" "" American - Latin/Hispanic "" 10165 Frontal face 2022-03-11 14:25:39 UTC 25387514 http://rdf.ncbi.nlm.nih.gov/pubmed/25387514 0 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6586 6586 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10165 male "" "" American - Latin/Hispanic "" 10165 Frontal face 2022-03-11 14:25:39 UTC 25387514 http://rdf.ncbi.nlm.nih.gov/pubmed/25387514 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6589 6589 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_10175 unknown "" "" Asian - South/Indian "" 10175 Frontal face 2022-03-11 15:07:07 UTC 24828762 http://rdf.ncbi.nlm.nih.gov/pubmed/24828762 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6589 6589 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_10175 unknown "" "" Asian - South/Indian "" 10175 Frontal face 2022-03-11 15:07:07 UTC 24828762 http://rdf.ncbi.nlm.nih.gov/pubmed/24828762 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6612 6612 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10207 female "" "" Caucasian "" 10207 Frontal face 2022-03-11 16:21:09 UTC 23756441 http://rdf.ncbi.nlm.nih.gov/pubmed/23756441 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6612 6612 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10207 female "" "" Caucasian "" 10207 Frontal face 2022-03-11 16:21:09 UTC 23756441 http://rdf.ncbi.nlm.nih.gov/pubmed/23756441 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6612 6612 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10208 female "" "" Caucasian "" 10208 Frontal face 2022-03-11 16:21:22 UTC 23756441 http://rdf.ncbi.nlm.nih.gov/pubmed/23756441 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6612 6612 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10208 female "" "" Caucasian "" 10208 Frontal face 2022-03-11 16:21:22 UTC 23756441 http://rdf.ncbi.nlm.nih.gov/pubmed/23756441 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6613 6613 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10209 male "" "" Caucasian "" 10209 Frontal face 2022-03-11 16:21:46 UTC 23756441 http://rdf.ncbi.nlm.nih.gov/pubmed/23756441 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6613 6613 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10209 male "" "" Caucasian "" 10209 Frontal face 2022-03-11 16:21:46 UTC 23756441 http://rdf.ncbi.nlm.nih.gov/pubmed/23756441 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6613 6613 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10210 male "" "" Caucasian "" 10210 Profile 2022-03-11 16:21:52 UTC 23756441 http://rdf.ncbi.nlm.nih.gov/pubmed/23756441 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6613 6613 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10210 male "" "" Caucasian "" 10210 Profile 2022-03-11 16:21:52 UTC 23756441 http://rdf.ncbi.nlm.nih.gov/pubmed/23756441 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6635 6635 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10250 male "" "" Caucasian "" 10250 Frontal face 2022-03-16 09:56:54 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6635 6635 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10250 male "" "" Caucasian "" 10250 Frontal face 2022-03-16 09:56:54 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6636 6636 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10251 female "" "" Caucasian "" 10251 Frontal face 2022-03-16 09:57:26 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6636 6636 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10251 female "" "" Caucasian "" 10251 Frontal face 2022-03-16 09:57:26 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6637 6637 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10252 male "" "" Caucasian "" 10252 Frontal face 2022-03-16 09:58:08 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 5 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6637 6637 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10252 male "" "" Caucasian "" 10252 Frontal face 2022-03-16 09:58:08 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 5 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6637 6637 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10253 male "" "" Caucasian "" 10253 Profile 2022-03-16 09:58:14 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 5 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6637 6637 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10253 male "" "" Caucasian "" 10253 Profile 2022-03-16 09:58:14 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 5 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6638 6638 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10254 female "" "" Caucasian "" 10254 Frontal face 2022-03-16 09:59:00 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6638 6638 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10254 female "" "" Caucasian "" 10254 Frontal face 2022-03-16 09:59:00 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6638 6638 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10255 female "" "" Caucasian "" 10255 Profile 2022-03-16 09:59:06 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6638 6638 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10255 female "" "" Caucasian "" 10255 Profile 2022-03-16 09:59:06 UTC 24844942 http://rdf.ncbi.nlm.nih.gov/pubmed/24844942 2 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6645 6645 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10266 male "" "" Caucasian "" 10266 Frontal face 2022-03-16 10:22:13 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 20 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6645 6645 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10266 male "" "" Caucasian "" 10266 Frontal face 2022-03-16 10:22:13 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 20 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6645 6645 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10267 male "" "" Caucasian "" 10267 Profile 2022-03-16 10:22:13 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 20 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6645 6645 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10267 male "" "" Caucasian "" 10267 Profile 2022-03-16 10:22:13 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 20 0 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/6688 6688 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_10346 male "" "" Caucasian "" 10346 Frontal face 2022-03-17 17:20:46 UTC 24656633 http://rdf.ncbi.nlm.nih.gov/pubmed/24656633 18 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/6688 6688 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_10346 male "" "" Caucasian "" 10346 Frontal face 2022-03-17 17:20:46 UTC 24656633 http://rdf.ncbi.nlm.nih.gov/pubmed/24656633 18 0 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/6688 6688 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_10347 male "" "" Caucasian "" 10347 Profile 2022-03-17 17:20:48 UTC 24656633 http://rdf.ncbi.nlm.nih.gov/pubmed/24656633 18 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/6688 6688 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_10347 male "" "" Caucasian "" 10347 Profile 2022-03-17 17:20:48 UTC 24656633 http://rdf.ncbi.nlm.nih.gov/pubmed/24656633 18 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6697 6697 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10361 female "" "" Caucasian "" 10361 Frontal face 2022-03-17 17:52:34 UTC 24246242 http://rdf.ncbi.nlm.nih.gov/pubmed/24246242 0 3 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6697 6697 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10361 female "" "" Caucasian "" 10361 Frontal face 2022-03-17 17:52:34 UTC 24246242 http://rdf.ncbi.nlm.nih.gov/pubmed/24246242 0 3 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6697 6697 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10362 female "" "" Caucasian "" 10362 Profile 2022-03-17 17:52:35 UTC 24246242 http://rdf.ncbi.nlm.nih.gov/pubmed/24246242 0 3 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6697 6697 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10362 female "" "" Caucasian "" 10362 Profile 2022-03-17 17:52:35 UTC 24246242 http://rdf.ncbi.nlm.nih.gov/pubmed/24246242 0 3 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6697 6697 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10363 female "" "" Caucasian "" 10363 Frontal face 2022-03-17 17:52:56 UTC 24246242 http://rdf.ncbi.nlm.nih.gov/pubmed/24246242 1 8 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6697 6697 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10363 female "" "" Caucasian "" 10363 Frontal face 2022-03-17 17:52:56 UTC 24246242 http://rdf.ncbi.nlm.nih.gov/pubmed/24246242 1 8 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6697 6697 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10364 female "" "" Caucasian "" 10364 Profile 2022-03-17 17:52:59 UTC 24246242 http://rdf.ncbi.nlm.nih.gov/pubmed/24246242 1 8 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/6697 6697 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10364 female "" "" Caucasian "" 10364 Profile 2022-03-17 17:52:59 UTC 24246242 http://rdf.ncbi.nlm.nih.gov/pubmed/24246242 1 8 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6792 6792 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_10547 female "" "" Asian - South/Indian "" 10547 Frontal face 2022-03-24 13:56:41 UTC 23060386 http://rdf.ncbi.nlm.nih.gov/pubmed/23060386 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6792 6792 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_10547 female "" "" Asian - South/Indian "" 10547 Frontal face 2022-03-24 13:56:41 UTC 23060386 http://rdf.ncbi.nlm.nih.gov/pubmed/23060386 0 0 "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6792 6792 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_10548 female "" "" Asian - South/Indian "" 10548 Profile 2022-03-24 13:56:45 UTC 23060386 http://rdf.ncbi.nlm.nih.gov/pubmed/23060386 0 0 "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/6792 6792 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_10548 female "" "" Asian - South/Indian "" 10548 Profile 2022-03-24 13:56:45 UTC 23060386 http://rdf.ncbi.nlm.nih.gov/pubmed/23060386 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6374 6374 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9831 male "" "" Caucasian "" 9831 Frontal face 2022-02-26 00:51:37 UTC 16740422 http://rdf.ncbi.nlm.nih.gov/pubmed/16740422 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6374 6374 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9831 male "" "" Caucasian "" 9831 Frontal face 2022-02-26 00:51:37 UTC 16740422 http://rdf.ncbi.nlm.nih.gov/pubmed/16740422 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6378 6378 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9835 female "" "" Asian - South/Indian "" 9835 Frontal face 2022-02-26 00:51:44 UTC 24470816 http://rdf.ncbi.nlm.nih.gov/pubmed/24470816 7 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6378 6378 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9835 female "" "" Asian - South/Indian "" 9835 Frontal face 2022-02-26 00:51:44 UTC 24470816 http://rdf.ncbi.nlm.nih.gov/pubmed/24470816 7 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6379 6379 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9836 female "" "" Asian - South/Indian "" 9836 Frontal face 2022-02-26 00:51:47 UTC 24470816 http://rdf.ncbi.nlm.nih.gov/pubmed/24470816 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6379 6379 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9836 female "" "" Asian - South/Indian "" 9836 Frontal face 2022-02-26 00:51:47 UTC 24470816 http://rdf.ncbi.nlm.nih.gov/pubmed/24470816 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6380 6380 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9837 female "" "" Asian - South/Indian "" 9837 Frontal face 2022-02-26 00:51:48 UTC 24470816 http://rdf.ncbi.nlm.nih.gov/pubmed/24470816 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6380 6380 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9837 female "" "" Asian - South/Indian "" 9837 Frontal face 2022-02-26 00:51:48 UTC 24470816 http://rdf.ncbi.nlm.nih.gov/pubmed/24470816 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6400 6400 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9860 female "" "" Caucasian "" 9860 Frontal face 2022-02-26 00:52:30 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6400 6400 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9860 female "" "" Caucasian "" 9860 Frontal face 2022-02-26 00:52:30 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6401 6401 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9861 male "" "" Caucasian "" 9861 Frontal face 2022-02-26 00:52:32 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6401 6401 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9861 male "" "" Caucasian "" 9861 Frontal face 2022-02-26 00:52:32 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6402 6402 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9862 male "" "" Caucasian "" 9862 Frontal face 2022-02-26 00:52:33 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6402 6402 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9862 male "" "" Caucasian "" 9862 Frontal face 2022-02-26 00:52:33 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6403 6403 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9863 male "" "" Caucasian "" 9863 Frontal face 2022-02-26 00:52:36 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6403 6403 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9863 male "" "" Caucasian "" 9863 Frontal face 2022-02-26 00:52:36 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6404 6404 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9864 male "" "" Caucasian "" 9864 Frontal face 2022-02-26 00:52:37 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6404 6404 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9864 male "" "" Caucasian "" 9864 Frontal face 2022-02-26 00:52:37 UTC 10536901 http://rdf.ncbi.nlm.nih.gov/pubmed/10536901 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6451 6451 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9929 male "" "" Asian - East "" 9929 Frontal face 2022-03-01 23:12:09 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 9 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6451 6451 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9929 male "" "" Asian - East "" 9929 Frontal face 2022-03-01 23:12:09 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 9 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6451 6451 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9930 male "" "" Asian - East "" 9930 Frontal face 2022-03-01 23:12:22 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 9 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6451 6451 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9930 male "" "" Asian - East "" 9930 Frontal face 2022-03-01 23:12:22 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 9 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6451 6451 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9931 male "" "" Asian - East "" 9931 Frontal face 2022-03-01 23:12:36 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 9 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6451 6451 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9931 male "" "" Asian - East "" 9931 Frontal face 2022-03-01 23:12:36 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 9 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6452 6452 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9932 male "" "" Asian - East "" 9932 Frontal face 2022-03-01 23:12:59 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 4 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6452 6452 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9932 male "" "" Asian - East "" 9932 Frontal face 2022-03-01 23:12:59 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 4 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6452 6452 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9933 male "" "" Asian - East "" 9933 Frontal face 2022-03-01 23:13:13 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 4 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6452 6452 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9933 male "" "" Asian - East "" 9933 Frontal face 2022-03-01 23:13:13 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 4 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6452 6452 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9934 male "" "" Asian - East "" 9934 Frontal face 2022-03-01 23:13:36 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 4 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6452 6452 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9934 male "" "" Asian - East "" 9934 Frontal face 2022-03-01 23:13:36 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 4 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6453 6453 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9935 male "" "" Asian - East "" 9935 Frontal face 2022-03-01 23:14:07 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 3 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6453 6453 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9935 male "" "" Asian - East "" 9935 Frontal face 2022-03-01 23:14:07 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 3 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6453 6453 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9936 male "" "" Asian - East "" 9936 Frontal face 2022-03-01 23:14:20 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 3 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6453 6453 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9936 male "" "" Asian - East "" 9936 Frontal face 2022-03-01 23:14:20 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 3 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6453 6453 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9937 male "" "" Asian - East "" 9937 Frontal face 2022-03-01 23:14:21 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 3 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6453 6453 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_9937 male "" "" Asian - East "" 9937 Frontal face 2022-03-01 23:14:21 UTC 31860958 http://rdf.ncbi.nlm.nih.gov/pubmed/31860958 3 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6849 6849 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10634 female "" "" Caucasian "" 10634 Frontal face 2022-04-08 14:15:10 UTC "" "" 3 7 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6849 6849 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10634 female "" "" Caucasian "" 10634 Frontal face 2022-04-08 14:15:10 UTC "" "" 3 7 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10636 male "" "" Caucasian "" 10636 Frontal face 2022-04-08 14:28:32 UTC "" "" 3 8 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10636 male "" "" Caucasian "" 10636 Frontal face 2022-04-08 14:28:32 UTC "" "" 3 8 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10637 male "" "" Caucasian "" 10637 Frontal face 2022-04-08 14:28:44 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10637 male "" "" Caucasian "" 10637 Frontal face 2022-04-08 14:28:44 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10638 male "" "" Caucasian "" 10638 Frontal face 2022-04-08 14:28:59 UTC "" "" 3 8 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10638 male "" "" Caucasian "" 10638 Frontal face 2022-04-08 14:28:59 UTC "" "" 3 8 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10639 male "" "" Caucasian "" 10639 Frontal face 2022-04-08 14:29:15 UTC "" "" 3 8 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10639 male "" "" Caucasian "" 10639 Frontal face 2022-04-08 14:29:15 UTC "" "" 3 8 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10640 male "" "" Caucasian "" 10640 Frontal face 2022-04-08 14:30:26 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10640 male "" "" Caucasian "" 10640 Frontal face 2022-04-08 14:30:26 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6850 6850 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10715 male "" "" Caucasian "" 10715 Frontal face 2022-04-08 14:31:28 UTC "" "" 5 11 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6850 6850 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10715 male "" "" Caucasian "" 10715 Frontal face 2022-04-08 14:31:28 UTC "" "" 5 11 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6850 6850 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10716 male "" "" Caucasian "" 10716 Frontal face 2022-04-08 14:31:46 UTC "" "" 6 5 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6850 6850 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10716 male "" "" Caucasian "" 10716 Frontal face 2022-04-08 14:31:46 UTC "" "" 6 5 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6850 6850 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10717 male "" "" Caucasian "" 10717 Profile 2022-04-08 14:32:03 UTC "" "" 6 7 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6850 6850 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10717 male "" "" Caucasian "" 10717 Profile 2022-04-08 14:32:03 UTC "" "" 6 7 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10731 male "" "" Caucasian "" 10731 Lab results (genetic testing) 2022-04-10 11:40:34 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10731 male "" "" Caucasian "" 10731 Lab results (genetic testing) 2022-04-10 11:40:34 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10732 male "" "" Caucasian "" 10732 Lab results (genetic testing) 2022-04-10 11:40:21 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10732 male "" "" Caucasian "" 10732 Lab results (genetic testing) 2022-04-10 11:40:21 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10733 male "" "" Caucasian "" 10733 Lab results (genetic testing) 2022-04-10 11:40:53 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10733 male "" "" Caucasian "" 10733 Lab results (genetic testing) 2022-04-10 11:40:53 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10734 male "" "" Caucasian "" 10734 Lab results (genetic testing) 2022-04-10 11:41:01 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10734 male "" "" Caucasian "" 10734 Lab results (genetic testing) 2022-04-10 11:41:01 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10735 male "" "" Caucasian "" 10735 Lab results (genetic testing) 2022-04-10 11:41:11 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10735 male "" "" Caucasian "" 10735 Lab results (genetic testing) 2022-04-10 11:41:11 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10736 male "" "" Caucasian "" 10736 Lab results (genetic testing) 2022-04-10 11:41:20 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10736 male "" "" Caucasian "" 10736 Lab results (genetic testing) 2022-04-10 11:41:20 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10737 male "" "" Caucasian "" 10737 Lab results (genetic testing) 2022-04-10 11:41:29 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6853 6853 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10737 male "" "" Caucasian "" 10737 Lab results (genetic testing) 2022-04-10 11:41:29 UTC "" "" 0 0 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6850 6850 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10751 male "" "" Caucasian "" 10751 Lab results (genetic testing) 2022-04-12 17:19:18 UTC "" "" 4 10 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6850 6850 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10751 male "" "" Caucasian "" 10751 Lab results (genetic testing) 2022-04-12 17:19:18 UTC "" "" 4 10 "" NANDO:1200686 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6849 6849 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10762 female "" "" Caucasian "" 10762 Medical information 2022-04-19 07:01:44 UTC "" "" 0 0 "" NANDO:2200960 MONDO:0007113 OMIM:105830 https://db.gestaltmatcher.org/patients/6849 6849 ANGELMAN SYNDROME https://db.gestaltmatcher.org/patients/image_10762 female "" "" Caucasian "" 10762 Medical information 2022-04-19 07:01:44 UTC "" "" 0 0 "" NANDO:1200875 MONDO:0008546 OMIM:187600 https://db.gestaltmatcher.org/patients/6346 6346 THANATOPHORIC DYSPLASIA, TYPE I https://db.gestaltmatcher.org/patients/image_9786 female "" "" "" "" 9786 Hand X-ray 2022-02-07 10:49:39 UTC 31686164 http://rdf.ncbi.nlm.nih.gov/pubmed/31686164 0 0 newborn NANDO:2201427 MONDO:0008546 OMIM:187600 https://db.gestaltmatcher.org/patients/6346 6346 THANATOPHORIC DYSPLASIA, TYPE I https://db.gestaltmatcher.org/patients/image_9786 female "" "" "" "" 9786 Hand X-ray 2022-02-07 10:49:39 UTC 31686164 http://rdf.ncbi.nlm.nih.gov/pubmed/31686164 0 0 newborn NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6644 6644 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10264 male "" "" "" "" 10264 Frontal face 2022-03-16 10:21:21 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 6 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6644 6644 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10264 male "" "" "" "" 10264 Frontal face 2022-03-16 10:21:21 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 6 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6644 6644 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10265 male "" "" "" "" 10265 Profile 2022-03-16 10:21:26 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 6 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6644 6644 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10265 male "" "" "" "" 10265 Profile 2022-03-16 10:21:26 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 6 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6646 6646 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10268 female "" "" "" "" 10268 Frontal face 2022-03-16 10:23:04 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 14 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6646 6646 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10268 female "" "" "" "" 10268 Frontal face 2022-03-16 10:23:04 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 14 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6646 6646 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10269 female "" "" "" "" 10269 Profile 2022-03-16 10:23:08 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 14 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6646 6646 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10269 female "" "" "" "" 10269 Profile 2022-03-16 10:23:08 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 14 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6647 6647 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10270 female "" "" "" "" 10270 Frontal face 2022-03-16 10:23:46 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 23 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6647 6647 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10270 female "" "" "" "" 10270 Frontal face 2022-03-16 10:23:46 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 23 0 "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6647 6647 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10271 female "" "" "" "" 10271 Profile 2022-03-16 10:23:47 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 23 0 "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6647 6647 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_10271 female "" "" "" "" 10271 Profile 2022-03-16 10:23:47 UTC 24668879 http://rdf.ncbi.nlm.nih.gov/pubmed/24668879 23 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/6342 6342 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9782 male "" "" "" "" 9782 Hand X-ray 2022-02-07 10:22:23 UTC 18629458 http://rdf.ncbi.nlm.nih.gov/pubmed/18629458 6 6 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/6342 6342 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9782 male "" "" "" "" 9782 Hand X-ray 2022-02-07 10:22:23 UTC 18629458 http://rdf.ncbi.nlm.nih.gov/pubmed/18629458 6 6 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/6343 6343 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9783 male "" "" "" "" 9783 Hand X-ray 2022-02-07 11:07:19 UTC 18629458 http://rdf.ncbi.nlm.nih.gov/pubmed/18629458 13 0 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/6343 6343 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9783 male "" "" "" "" 9783 Hand X-ray 2022-02-07 11:07:19 UTC 18629458 http://rdf.ncbi.nlm.nih.gov/pubmed/18629458 13 0 "" NANDO:2201009 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/6347 6347 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9787 male "" "" "" "" 9787 Hand X-ray 2022-02-07 10:54:51 UTC 31686164 http://rdf.ncbi.nlm.nih.gov/pubmed/31686164 0 6 "" NANDO:1200877 MONDO:0007037 OMIM:100800 https://db.gestaltmatcher.org/patients/6347 6347 ACHONDROPLASIA https://db.gestaltmatcher.org/patients/image_9787 male "" "" "" "" 9787 Hand X-ray 2022-02-07 10:54:51 UTC 31686164 http://rdf.ncbi.nlm.nih.gov/pubmed/31686164 0 6 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11082 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11082 Frontal face 2022-05-03 20:51:31 UTC "" "" 0 0 3 days old NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11083 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11083 Frontal face 2022-05-03 20:51:52 UTC "" "" 0 0 5 days old NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11084 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11084 Frontal face 2022-05-03 20:52:15 UTC "" "" 0 1 One month old NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11085 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11085 Frontal face 2022-05-03 20:52:42 UTC "" "" 0 3 3 months old NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11086 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11086 Frontal face 2022-05-03 20:58:25 UTC "" "" 0 8 8 months old NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11087 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11087 Frontal face 2022-05-03 20:58:56 UTC "" "" 1 0 One year NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11088 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11088 Frontal face 2022-05-03 20:59:26 UTC "" "" 1 3 15 months old NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11089 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11089 Frontal face 2022-05-03 20:59:58 UTC "" "" 1 5 17 months old NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11090 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11090 Frontal face 2022-05-03 21:00:19 UTC "" "" 1 7 19 months old NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11091 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11091 Frontal face 2022-05-03 21:01:09 UTC "" "" 1 9 21 months old - Nathan and Max (both SYS) NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11092 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11092 Frontal face 2022-05-03 21:01:40 UTC "" "" 2 1 Emma and Nathan - both SYS NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6865 6865 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10743 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10743 Frontal face 2022-04-11 07:57:10 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6865 6865 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10744 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10744 Frontal face 2022-04-11 07:57:27 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6865 6865 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10745 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10745 Others 2022-04-11 07:57:38 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6865 6865 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10746 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10746 Frontal face 2022-04-11 07:58:10 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6866 6866 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10752 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10752 Frontal face 2022-04-12 12:15:07 UTC "" "" 0 2 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6866 6866 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10754 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10754 Frontal face 2022-04-12 12:19:56 UTC "" "" 0 6 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6866 6866 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10755 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10755 Frontal face 2022-04-12 12:20:56 UTC "" "" 1 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6866 6866 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10756 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10756 Frontal face 2022-04-12 12:23:53 UTC "" "" 1 11 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6866 6866 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10757 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10757 Frontal face 2022-04-12 12:22:39 UTC "" "" 1 10 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6866 6866 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10758 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10758 Frontal face 2022-04-12 12:24:53 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6866 6866 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10759 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10759 Frontal face 2022-04-12 12:25:27 UTC "" "" 2 6 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6866 6866 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10760 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10760 Medical information 2022-04-12 14:27:02 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6866 6866 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10761 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 10761 Medical information 2022-04-12 14:28:32 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11093 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11093 Frontal face 2022-05-04 11:12:44 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11094 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11094 Frontal face 2022-05-04 11:12:52 UTC "" "" 2 9 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11095 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11095 Frontal face 2022-05-04 11:12:59 UTC "" "" 3 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11096 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11096 Frontal face 2022-05-04 11:13:06 UTC "" "" 3 5 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11097 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11097 Frontal face 2022-05-04 11:13:15 UTC "" "" 4 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11098 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11098 Frontal face 2022-05-04 11:13:24 UTC "" "" 4 6 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11099 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11099 Frontal face 2022-05-04 11:13:31 UTC "" "" 5 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11100 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11100 Frontal face 2022-05-04 11:13:38 UTC "" "" 6 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11101 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11101 Frontal face 2022-05-04 11:11:51 UTC "" "" 7 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6867 6867 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11102 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11102 Frontal face 2022-05-04 11:13:56 UTC "" "" 7 7 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11121 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11121 Medical information 2022-05-08 05:07:13 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11198 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11198 Frontal face 2022-05-15 17:59:06 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11199 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11199 Frontal face 2022-05-15 17:59:34 UTC "" "" 0 0 "" NANDO:1200922 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/7346 7346 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_11726 female BICRA http://identifiers.org/ncbigene/29998 European - Northwestern Dutch 11726 Frontal face 2022-09-05 11:30:06 UTC 33232675 http://rdf.ncbi.nlm.nih.gov/pubmed/33232675 2 4 "" NANDO:2200205 MONDO:0009061 OMIM:219700 https://db.gestaltmatcher.org/patients/7346 7346 CYSTIC FIBROSIS https://db.gestaltmatcher.org/patients/image_11726 female BICRA http://identifiers.org/ncbigene/29998 European - Northwestern Dutch 11726 Frontal face 2022-09-05 11:30:06 UTC 33232675 http://rdf.ncbi.nlm.nih.gov/pubmed/33232675 2 4 "" NANDO:1201059 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11521 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11521 Frontal face 2022-07-21 09:33:57 UTC "" "" 0 7 "" NANDO:2201530 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11521 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11521 Frontal face 2022-07-21 09:33:57 UTC "" "" 0 7 "" NANDO:2201530 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11522 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11522 Profile 2022-07-21 09:35:16 UTC "" "" 0 7 "" NANDO:1201059 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11522 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11522 Profile 2022-07-21 09:35:16 UTC "" "" 0 7 "" NANDO:1201059 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11523 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11523 Limbs 2022-07-21 09:37:05 UTC "" "" 0 7 "" NANDO:2201530 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11523 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11523 Limbs 2022-07-21 09:37:05 UTC "" "" 0 7 "" NANDO:1201059 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11524 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11524 Limbs 2022-07-21 10:24:34 UTC "" "" 0 7 "" NANDO:2201530 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11524 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11524 Limbs 2022-07-21 10:24:34 UTC "" "" 0 7 "" NANDO:2201530 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11525 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11525 Limbs 2022-07-21 09:38:21 UTC "" "" 0 7 "" NANDO:1201059 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11525 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11525 Limbs 2022-07-21 09:38:21 UTC "" "" 0 7 "" NANDO:2201530 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11526 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11526 Limbs 2022-07-21 09:39:06 UTC "" "" 0 7 "" NANDO:1201059 MONDO:0009039 OMIM:218600 https://db.gestaltmatcher.org/patients/7233 7233 BALLER-GEROLD SYNDROME https://db.gestaltmatcher.org/patients/image_11526 female RECQL4 http://identifiers.org/ncbigene/9401 Asian - West/Middle Eastern Syria 11526 Limbs 2022-07-21 09:39:06 UTC "" "" 0 7 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/7253 7253 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_11581 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 11581 Frontal face 2022-07-30 17:25:44 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 24 5 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/7253 7253 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_11581 female LIMK1 http://identifiers.org/ncbigene/3984 "" Caucasian 11581 Frontal face 2022-07-30 17:25:44 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 24 5 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/7253 7253 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_11581 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 11581 Frontal face 2022-07-30 17:25:44 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 24 5 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/7253 7253 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_11581 female ELN http://identifiers.org/ncbigene/2006 "" Caucasian 11581 Frontal face 2022-07-30 17:25:44 UTC 11170076 http://rdf.ncbi.nlm.nih.gov/pubmed/11170076 24 5 "" NANDO:2200688 MONDO:0013227 OMIM:613329 https://db.gestaltmatcher.org/patients/6922 6922 PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY https://db.gestaltmatcher.org/patients/image_10781 male SRCAP http://identifiers.org/ncbigene/10847 Caucasian "" 10781 Frontal face 2022-04-19 16:33:15 UTC 33909990 http://rdf.ncbi.nlm.nih.gov/pubmed/33909990 11 0 "" NANDO:1201113 MONDO:0013227 OMIM:613329 https://db.gestaltmatcher.org/patients/6922 6922 PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY https://db.gestaltmatcher.org/patients/image_10781 male SRCAP http://identifiers.org/ncbigene/10847 Caucasian "" 10781 Frontal face 2022-04-19 16:33:15 UTC 33909990 http://rdf.ncbi.nlm.nih.gov/pubmed/33909990 11 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6957 6957 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10856 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10856 Frontal face 2022-04-21 11:40:11 UTC 23436491 http://rdf.ncbi.nlm.nih.gov/pubmed/23436491 2 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6957 6957 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10856 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10856 Frontal face 2022-04-21 11:40:11 UTC 23436491 http://rdf.ncbi.nlm.nih.gov/pubmed/23436491 2 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6958 6958 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10857 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10857 Frontal face 2022-04-21 11:48:23 UTC 22077973 http://rdf.ncbi.nlm.nih.gov/pubmed/22077973 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6958 6958 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10857 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10857 Frontal face 2022-04-21 11:48:23 UTC 22077973 http://rdf.ncbi.nlm.nih.gov/pubmed/22077973 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6958 6958 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10858 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10858 Profile 2022-04-21 11:48:28 UTC 22077973 http://rdf.ncbi.nlm.nih.gov/pubmed/22077973 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6958 6958 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10858 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10858 Profile 2022-04-21 11:48:28 UTC 22077973 http://rdf.ncbi.nlm.nih.gov/pubmed/22077973 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6959 6959 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10859 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10859 Frontal face 2022-04-21 11:57:15 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 4 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6959 6959 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10859 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10859 Frontal face 2022-04-21 11:57:15 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 4 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6960 6960 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10860 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10860 Frontal face 2022-04-21 12:01:32 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 32 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6960 6960 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10860 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10860 Frontal face 2022-04-21 12:01:32 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 32 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6961 6961 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10861 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10861 Frontal face 2022-04-21 12:02:49 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 11 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6961 6961 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10861 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10861 Frontal face 2022-04-21 12:02:49 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 11 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6962 6962 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10862 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10862 Frontal face 2022-04-21 12:08:31 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 1 6 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6962 6962 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10862 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10862 Frontal face 2022-04-21 12:08:31 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 1 6 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6963 6963 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10863 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10863 Frontal face 2022-04-21 12:09:52 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 5 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6963 6963 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10863 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10863 Frontal face 2022-04-21 12:09:52 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 5 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6964 6964 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10864 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10864 Frontal face 2022-04-21 12:11:05 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 34 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6964 6964 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10864 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10864 Frontal face 2022-04-21 12:11:05 UTC 30353918 http://rdf.ncbi.nlm.nih.gov/pubmed/30353918 34 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6966 6966 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10867 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10867 Frontal face 2022-04-21 12:39:23 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6966 6966 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10867 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10867 Frontal face 2022-04-21 12:39:23 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6967 6967 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10868 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10868 Frontal face 2022-04-21 12:40:25 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6967 6967 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10868 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10868 Frontal face 2022-04-21 12:40:25 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6967 6967 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10869 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10869 Profile 2022-04-21 12:40:30 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6967 6967 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10869 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10869 Profile 2022-04-21 12:40:30 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6968 6968 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10870 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10870 Frontal face 2022-04-21 12:41:36 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6968 6968 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10870 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10870 Frontal face 2022-04-21 12:41:36 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6969 6969 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10871 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10871 Frontal face 2022-04-21 12:42:34 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6969 6969 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10871 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10871 Frontal face 2022-04-21 12:42:34 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6969 6969 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10872 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10872 Frontal face 2022-04-21 12:42:58 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6969 6969 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10872 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10872 Frontal face 2022-04-21 12:42:58 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6971 6971 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10874 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10874 Frontal face 2022-04-21 12:46:00 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6971 6971 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10874 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10874 Frontal face 2022-04-21 12:46:00 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6973 6973 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10879 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10879 Frontal face 2022-04-21 12:52:24 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6973 6973 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10879 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10879 Frontal face 2022-04-21 12:52:24 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6973 6973 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10880 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10880 Frontal face 2022-04-21 12:52:35 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6973 6973 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10880 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10880 Frontal face 2022-04-21 12:52:35 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6973 6973 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10881 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10881 Frontal face 2022-04-21 12:52:46 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6973 6973 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10881 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10881 Frontal face 2022-04-21 12:52:46 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6973 6973 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10882 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10882 Profile 2022-04-21 12:52:49 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6973 6973 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10882 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10882 Profile 2022-04-21 12:52:49 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7010 7010 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10967 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10967 Frontal face 2022-04-28 14:58:44 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7010 7010 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10967 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10967 Frontal face 2022-04-28 14:58:44 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7010 7010 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10968 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10968 Frontal face 2022-04-28 14:58:47 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7010 7010 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10968 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10968 Frontal face 2022-04-28 14:58:47 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7011 7011 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10969 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10969 Frontal face 2022-04-28 14:59:44 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7011 7011 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10969 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10969 Frontal face 2022-04-28 14:59:44 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7012 7012 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10970 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10970 Frontal face 2022-04-28 15:00:51 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7012 7012 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10970 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10970 Frontal face 2022-04-28 15:00:51 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7012 7012 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10971 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10971 Profile 2022-04-28 15:00:56 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7012 7012 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10971 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10971 Profile 2022-04-28 15:00:56 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7013 7013 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10972 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10972 Frontal face 2022-04-28 15:01:54 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7013 7013 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10972 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10972 Frontal face 2022-04-28 15:01:54 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7014 7014 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10973 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10973 Frontal face 2022-04-28 15:02:45 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7014 7014 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10973 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10973 Frontal face 2022-04-28 15:02:45 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7014 7014 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10974 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10974 Frontal face 2022-04-28 15:02:55 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7014 7014 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10974 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10974 Frontal face 2022-04-28 15:02:55 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7015 7015 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10975 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10975 Frontal face 2022-04-28 15:03:58 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7015 7015 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10975 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10975 Frontal face 2022-04-28 15:03:58 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7015 7015 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10976 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10976 Profile 2022-04-28 15:04:00 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7015 7015 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10976 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10976 Profile 2022-04-28 15:04:00 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7016 7016 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10977 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10977 Frontal face 2022-04-28 15:04:58 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7016 7016 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10977 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10977 Frontal face 2022-04-28 15:04:58 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7016 7016 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10978 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10978 Profile 2022-04-28 15:05:04 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7016 7016 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10978 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10978 Profile 2022-04-28 15:05:04 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7018 7018 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10981 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10981 Frontal face 2022-04-28 15:20:42 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7018 7018 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10981 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10981 Frontal face 2022-04-28 15:20:42 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7018 7018 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10982 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10982 Frontal face 2022-04-28 15:20:51 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7018 7018 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10982 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10982 Frontal face 2022-04-28 15:20:51 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7018 7018 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10983 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10983 Frontal face 2022-04-28 15:20:59 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7018 7018 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10983 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10983 Frontal face 2022-04-28 15:20:59 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7018 7018 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10984 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10984 Frontal face 2022-04-28 15:21:05 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7018 7018 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10984 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10984 Frontal face 2022-04-28 15:21:05 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7019 7019 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10985 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10985 Frontal face 2022-04-28 15:21:59 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7019 7019 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10985 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10985 Frontal face 2022-04-28 15:21:59 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7019 7019 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10986 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10986 Frontal face 2022-04-28 15:22:12 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7019 7019 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10986 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10986 Frontal face 2022-04-28 15:22:12 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7022 7022 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10989 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10989 Frontal face 2022-04-28 15:24:55 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7022 7022 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10989 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10989 Frontal face 2022-04-28 15:24:55 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7022 7022 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10990 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10990 Profile 2022-04-28 15:24:59 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7022 7022 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10990 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10990 Profile 2022-04-28 15:24:59 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7023 7023 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10991 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10991 Frontal face 2022-04-28 15:26:06 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7023 7023 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10991 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10991 Frontal face 2022-04-28 15:26:06 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7023 7023 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10992 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10992 Frontal face 2022-04-28 15:26:16 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7023 7023 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10992 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10992 Frontal face 2022-04-28 15:26:16 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7023 7023 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10993 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10993 Frontal face 2022-04-28 15:26:29 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7023 7023 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10993 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10993 Frontal face 2022-04-28 15:26:29 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7023 7023 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10994 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10994 Frontal face 2022-04-28 15:26:40 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7023 7023 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10994 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 10994 Frontal face 2022-04-28 15:26:40 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7026 7026 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10997 female KAT6B http://identifiers.org/ncbigene/23522 Asian - East "" 10997 Frontal face 2022-04-28 15:35:21 UTC 32391291 http://rdf.ncbi.nlm.nih.gov/pubmed/32391291 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7026 7026 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10997 female KAT6B http://identifiers.org/ncbigene/23522 Asian - East "" 10997 Frontal face 2022-04-28 15:35:21 UTC 32391291 http://rdf.ncbi.nlm.nih.gov/pubmed/32391291 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7026 7026 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10998 female KAT6B http://identifiers.org/ncbigene/23522 Asian - East "" 10998 Frontal face 2022-04-28 15:35:32 UTC 32391291 http://rdf.ncbi.nlm.nih.gov/pubmed/32391291 1 7 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7026 7026 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10998 female KAT6B http://identifiers.org/ncbigene/23522 Asian - East "" 10998 Frontal face 2022-04-28 15:35:32 UTC 32391291 http://rdf.ncbi.nlm.nih.gov/pubmed/32391291 1 7 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7028 7028 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11000 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11000 Frontal face 2022-04-28 15:44:44 UTC 30569622 http://rdf.ncbi.nlm.nih.gov/pubmed/30569622 10 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7028 7028 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11000 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11000 Frontal face 2022-04-28 15:44:44 UTC 30569622 http://rdf.ncbi.nlm.nih.gov/pubmed/30569622 10 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7028 7028 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11001 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11001 Profile 2022-04-28 15:44:48 UTC 30569622 http://rdf.ncbi.nlm.nih.gov/pubmed/30569622 10 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7028 7028 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11001 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11001 Profile 2022-04-28 15:44:48 UTC 30569622 http://rdf.ncbi.nlm.nih.gov/pubmed/30569622 10 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7029 7029 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11002 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11002 Frontal face 2022-04-28 15:46:04 UTC 30569622 http://rdf.ncbi.nlm.nih.gov/pubmed/30569622 6 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7029 7029 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11002 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11002 Frontal face 2022-04-28 15:46:04 UTC 30569622 http://rdf.ncbi.nlm.nih.gov/pubmed/30569622 6 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7029 7029 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11003 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11003 Profile 2022-04-28 15:46:12 UTC 30569622 http://rdf.ncbi.nlm.nih.gov/pubmed/30569622 6 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7029 7029 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11003 male KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11003 Profile 2022-04-28 15:46:12 UTC 30569622 http://rdf.ncbi.nlm.nih.gov/pubmed/30569622 6 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7031 7031 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11007 male KAT6B http://identifiers.org/ncbigene/23522 Asian - East "" 11007 Frontal face 2022-04-28 15:55:58 UTC 27696664 http://rdf.ncbi.nlm.nih.gov/pubmed/27696664 3 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7031 7031 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11007 male KAT6B http://identifiers.org/ncbigene/23522 Asian - East "" 11007 Frontal face 2022-04-28 15:55:58 UTC 27696664 http://rdf.ncbi.nlm.nih.gov/pubmed/27696664 3 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7032 7032 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11008 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 11008 Frontal face 2022-04-28 16:03:58 UTC 27452416 http://rdf.ncbi.nlm.nih.gov/pubmed/27452416 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7032 7032 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11008 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 11008 Frontal face 2022-04-28 16:03:58 UTC 27452416 http://rdf.ncbi.nlm.nih.gov/pubmed/27452416 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7032 7032 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11009 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 11009 Profile 2022-04-28 16:04:02 UTC 27452416 http://rdf.ncbi.nlm.nih.gov/pubmed/27452416 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7032 7032 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11009 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian "" 11009 Profile 2022-04-28 16:04:02 UTC 27452416 http://rdf.ncbi.nlm.nih.gov/pubmed/27452416 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7033 7033 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11010 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11010 Frontal face 2022-04-28 16:09:15 UTC 26334766 http://rdf.ncbi.nlm.nih.gov/pubmed/26334766 11 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7033 7033 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11010 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11010 Frontal face 2022-04-28 16:09:15 UTC 26334766 http://rdf.ncbi.nlm.nih.gov/pubmed/26334766 11 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7034 7034 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11011 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11011 Frontal face 2022-04-28 16:09:10 UTC 26334766 http://rdf.ncbi.nlm.nih.gov/pubmed/26334766 2 6 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7034 7034 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11011 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11011 Frontal face 2022-04-28 16:09:10 UTC 26334766 http://rdf.ncbi.nlm.nih.gov/pubmed/26334766 2 6 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7035 7035 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11012 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11012 Frontal face 2022-04-28 16:09:54 UTC 26334766 http://rdf.ncbi.nlm.nih.gov/pubmed/26334766 4 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7035 7035 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11012 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11012 Frontal face 2022-04-28 16:09:54 UTC 26334766 http://rdf.ncbi.nlm.nih.gov/pubmed/26334766 4 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7036 7036 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11013 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11013 Frontal face 2022-04-28 16:14:41 UTC 26370006 http://rdf.ncbi.nlm.nih.gov/pubmed/26370006 0 7 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7036 7036 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11013 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11013 Frontal face 2022-04-28 16:14:41 UTC 26370006 http://rdf.ncbi.nlm.nih.gov/pubmed/26370006 0 7 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7036 7036 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11014 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11014 Frontal face 2022-04-28 16:14:52 UTC 26370006 http://rdf.ncbi.nlm.nih.gov/pubmed/26370006 3 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7036 7036 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11014 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11014 Frontal face 2022-04-28 16:14:52 UTC 26370006 http://rdf.ncbi.nlm.nih.gov/pubmed/26370006 3 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7036 7036 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11015 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11015 Frontal face 2022-04-28 16:15:02 UTC 26370006 http://rdf.ncbi.nlm.nih.gov/pubmed/26370006 4 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7036 7036 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11015 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11015 Frontal face 2022-04-28 16:15:02 UTC 26370006 http://rdf.ncbi.nlm.nih.gov/pubmed/26370006 4 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7036 7036 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11016 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11016 Frontal face 2022-04-28 16:15:15 UTC 26370006 http://rdf.ncbi.nlm.nih.gov/pubmed/26370006 10 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7036 7036 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11016 female KAT6B http://identifiers.org/ncbigene/23522 Caucasian, European "" 11016 Frontal face 2022-04-28 16:15:15 UTC 26370006 http://rdf.ncbi.nlm.nih.gov/pubmed/26370006 10 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11103 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11103 Frontal face 2022-05-04 11:32:38 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11104 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11104 Frontal face 2022-05-04 11:34:42 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11105 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11105 Frontal face 2022-05-04 11:35:06 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11106 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11106 Frontal face 2022-05-04 11:35:28 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11107 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11107 Frontal face 2022-05-04 11:35:50 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11108 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11108 Frontal face 2022-05-04 11:36:33 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11109 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11109 Frontal face 2022-05-04 11:37:15 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11110 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11110 Frontal face 2022-05-04 11:37:36 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11111 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11111 Profile 2023-05-19 12:13:28 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11112 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11112 Frontal face 2022-05-04 11:38:29 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6878 6878 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11113 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11113 Frontal face 2022-05-04 11:38:51 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11200 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11200 Frontal face 2022-05-15 17:59:53 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11201 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11201 Frontal face 2022-05-15 18:00:07 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11202 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11202 Frontal face 2022-05-15 18:00:17 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11203 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11203 Frontal face 2022-05-15 18:00:28 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11204 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11204 Frontal face 2022-05-15 18:00:39 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11205 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11205 Profile 2023-05-19 12:11:47 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11206 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11206 Frontal face 2022-05-15 18:01:11 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11207 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11207 Frontal face 2022-05-15 18:01:22 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/7078 7078 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11208 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11208 Frontal face 2022-05-16 04:28:53 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/7078 7078 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11209 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11209 Frontal face 2022-05-16 04:29:04 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/7078 7078 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11210 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11210 Frontal face 2022-05-16 04:29:14 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/7078 7078 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11211 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11211 Frontal face 2022-05-16 04:29:27 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11212 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11212 Frontal face 2022-05-17 07:14:16 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11213 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11213 Frontal face 2022-05-17 07:14:37 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11214 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11214 Frontal face 2022-05-17 07:14:59 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11215 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11215 Frontal face 2022-05-17 07:15:26 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11216 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11216 Frontal face 2022-05-17 07:15:43 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11217 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11217 Frontal face 2022-05-17 07:16:07 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11218 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11218 Frontal face 2022-05-17 07:16:32 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11219 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11219 Frontal face 2022-05-17 07:16:49 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11220 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11220 Frontal face 2022-05-17 07:17:05 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11221 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11221 Frontal face 2022-05-17 07:17:29 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11222 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11222 Frontal face 2022-05-17 07:17:50 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6882 6882 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11223 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 11223 Frontal face 2022-05-17 07:18:13 UTC "" "" 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11307 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11307 Frontal face 2024-09-14 10:20:05 UTC "" "" 8 6 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11307 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11307 Frontal face 2024-09-14 10:20:05 UTC "" "" 8 6 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11308 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11308 Frontal face 2024-09-14 10:20:19 UTC "" "" 8 6 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11308 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11308 Frontal face 2024-09-14 10:20:19 UTC "" "" 8 6 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11309 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11309 Frontal face 2022-05-27 17:10:29 UTC "" "" 1 3 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11309 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11309 Frontal face 2022-05-27 17:10:29 UTC "" "" 1 3 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11311 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11311 Medical information 2023-01-03 08:39:10 UTC "" "" 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11311 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11311 Medical information 2023-01-03 08:39:10 UTC "" "" 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11313 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11313 Frontal face 2022-05-28 16:02:41 UTC "" "" 0 2 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11313 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11313 Frontal face 2022-05-28 16:02:41 UTC "" "" 0 2 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11314 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11314 Frontal face 2022-05-28 16:03:32 UTC "" "" 2 10 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11314 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11314 Frontal face 2022-05-28 16:03:32 UTC "" "" 2 10 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11315 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11315 Lab results (genetic testing) 2023-01-03 08:39:49 UTC "" "" 0 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11315 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11315 Lab results (genetic testing) 2023-01-03 08:39:49 UTC "" "" 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11316 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11316 Profile 2022-05-30 07:06:47 UTC "" "" 8 6 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7119 7119 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11316 male RAI1 http://identifiers.org/ncbigene/10743 Caucasian, European "" 11316 Profile 2022-05-30 07:06:47 UTC "" "" 8 6 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/7155 7155 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_11366 male KMT2A http://identifiers.org/ncbigene/4297 African - North "" 11366 Frontal face 2022-09-07 09:23:14 UTC "" "" 1 2 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7170 7170 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11398 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11398 Frontal face 2022-09-11 23:12:12 UTC "" "" 18 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7170 7170 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11400 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11400 Limbs 2022-06-29 17:36:57 UTC "" "" 0 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/7171 7171 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_11402 female AHDC1 http://identifiers.org/ncbigene/27245 European "" 11402 Frontal face 2022-06-29 20:44:34 UTC "" "" 2 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/7171 7171 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_11403 female AHDC1 http://identifiers.org/ncbigene/27245 European "" 11403 Frontal face 2022-06-29 20:46:08 UTC "" "" 8 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/7171 7171 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_11404 female AHDC1 http://identifiers.org/ncbigene/27245 European "" 11404 Frontal face 2022-06-29 20:48:28 UTC "" "" 25 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7170 7170 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11408 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11408 Others 2022-06-30 17:48:51 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7170 7170 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11409 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11409 Hand X-ray 2022-06-30 17:49:19 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7216 7216 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11466 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11466 Frontal face 2022-09-11 22:52:32 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7216 7216 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11467 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11467 Limbs 2022-07-07 07:25:00 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7216 7216 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11468 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11468 Limbs 2022-07-07 07:25:19 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7170 7170 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11469 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11469 Limbs 2022-07-07 07:27:29 UTC "" "" 0 0 "" NANDO:1200111 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7146 7146 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_11574 male GUSB http://identifiers.org/ncbigene/2990 European "" 11574 Frontal face 2022-07-29 14:04:47 UTC "" "" 22 8 "" NANDO:2200552 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7146 7146 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_11574 male GUSB http://identifiers.org/ncbigene/2990 European "" 11574 Frontal face 2022-07-29 14:04:47 UTC "" "" 22 8 "" NANDO:1200464 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/7266 7266 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_11648 male CHD7 http://identifiers.org/ncbigene/55636 African - North "" 11648 Frontal face 2022-08-18 09:34:49 UTC "" "" 31 10 "" NANDO:2200972 MONDO:0008965 OMIM:214800 https://db.gestaltmatcher.org/patients/7266 7266 CHARGE SYNDROME https://db.gestaltmatcher.org/patients/image_11648 male CHD7 http://identifiers.org/ncbigene/55636 African - North "" 11648 Frontal face 2022-08-18 09:34:49 UTC "" "" 31 10 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7278 7278 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11653 female RAI1 http://identifiers.org/ncbigene/10743 European "" 11653 Frontal face 2022-08-23 11:10:03 UTC "" "" 5 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7278 7278 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11653 female RAI1 http://identifiers.org/ncbigene/10743 European "" 11653 Frontal face 2022-08-23 11:10:03 UTC "" "" 5 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7216 7216 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11716 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11716 Others 2022-09-11 22:52:42 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7216 7216 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11717 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11717 Others 2022-09-03 16:57:26 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7216 7216 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11718 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11718 Others 2022-09-11 22:52:53 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7216 7216 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11719 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11719 Others 2022-09-03 16:58:27 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7216 7216 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11720 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11720 Others 2022-09-11 22:53:01 UTC "" "" 0 0 "" NANDO:1201101 MONDO:0008477 OMIM:184252 https://db.gestaltmatcher.org/patients/7216 7216 SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE https://db.gestaltmatcher.org/patients/image_11721 male TRPV4 http://identifiers.org/ncbigene/59341 African - North "" 11721 Others 2022-09-11 22:53:08 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6869 6869 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14093 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14093 Frontal face 2023-03-21 08:25:56 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6869 6869 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14094 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14094 Frontal face 2023-03-21 08:26:06 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6869 6869 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14095 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14095 Consent 2023-03-21 08:26:18 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6876 6876 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14100 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14100 Consent 2023-03-21 10:39:15 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6876 6876 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14104 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14104 Frontal face 2023-03-21 11:42:50 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6876 6876 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14105 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14105 Frontal face 2023-03-21 11:43:11 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6876 6876 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14106 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14106 Frontal face 2023-03-21 11:43:22 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6876 6876 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14107 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14107 Frontal face 2023-03-21 11:43:34 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6876 6876 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14108 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14108 Frontal face 2023-03-21 11:43:37 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6876 6876 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14109 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14109 Frontal face 2023-03-21 11:43:51 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6876 6876 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14110 male MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14110 Medical information 2023-03-22 09:53:11 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6868 6868 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14763 female MAGEL2 http://identifiers.org/ncbigene/54551 Caucasian "" 14763 Frontal face 2023-06-07 16:00:21 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10921 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10921 Frontal face 2022-04-27 15:09:49 UTC "" "" 0 0 2 weeks - macroglossia NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10922 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10922 Frontal face 2022-04-27 15:14:21 UTC "" "" 0 5 Hand contractures, macroglossia, excessive weight gain NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10923 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10923 Limbs 2022-04-27 15:25:05 UTC "" "" 0 9 Rapid weight gain, corrected clubfoot. Small feet. NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10924 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10924 Limbs 2022-04-27 15:27:48 UTC "" "" 1 1 Hand contractures, tapered & slightly windswept fingers (comparison with Father) NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10925 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10925 Frontal face 2022-04-27 15:36:43 UTC "" "" 3 8 Small stature, low-set ears NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10927 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10927 Frontal face 2022-04-27 15:42:34 UTC "" "" 0 1 Intermittent strabismus in both eyes. Macroglossia NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10931 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10931 Limbs 2022-04-27 16:04:25 UTC "" "" 0 0 2 weeks - hand contractures, talipes equinovarus NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6970 6970 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10873 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10873 Frontal face 2022-04-21 12:44:29 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/6970 6970 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10873 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10873 Frontal face 2022-04-21 12:44:29 UTC 34519438 http://rdf.ncbi.nlm.nih.gov/pubmed/34519438 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7008 7008 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10965 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10965 Frontal face 2022-04-28 14:57:11 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7008 7008 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10965 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10965 Frontal face 2022-04-28 14:57:11 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7009 7009 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10966 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10966 Frontal face 2022-04-28 14:57:52 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7009 7009 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10966 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10966 Frontal face 2022-04-28 14:57:52 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7017 7017 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10979 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10979 Frontal face 2022-04-28 15:19:49 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7017 7017 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10979 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10979 Frontal face 2022-04-28 15:19:49 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7017 7017 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10980 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10980 Profile 2022-04-28 15:19:48 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7017 7017 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10980 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10980 Profile 2022-04-28 15:19:48 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7020 7020 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10987 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10987 Frontal face 2022-04-28 15:23:03 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7020 7020 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10987 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10987 Frontal face 2022-04-28 15:23:03 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7021 7021 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10988 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10988 Frontal face 2022-04-28 15:23:53 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7021 7021 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_10988 female KAT6B http://identifiers.org/ncbigene/23522 "" "" 10988 Frontal face 2022-04-28 15:23:53 UTC 32424177 http://rdf.ncbi.nlm.nih.gov/pubmed/32424177 0 0 "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7047 7047 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11037 male KAT6B http://identifiers.org/ncbigene/23522 "" "" 11037 Frontal face 2022-04-28 16:52:00 UTC 22715153 http://rdf.ncbi.nlm.nih.gov/pubmed/22715153 0 0 "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/7047 7047 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_11037 male KAT6B http://identifiers.org/ncbigene/23522 "" "" 11037 Frontal face 2022-04-28 16:52:00 UTC 22715153 http://rdf.ncbi.nlm.nih.gov/pubmed/22715153 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6905 6905 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10718 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10718 Frontal face 2022-04-11 07:37:47 UTC "" "" 2 1 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6905 6905 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10719 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10719 Others 2022-04-11 07:38:06 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6905 6905 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10720 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10720 Others 2022-04-11 07:38:18 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6905 6905 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10721 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10721 Others 2022-04-11 07:38:28 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6905 6905 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10722 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10722 Others 2022-04-08 16:49:34 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6906 6906 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10723 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10723 Frontal face 2022-04-08 16:59:28 UTC "" "" 2 7 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6906 6906 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10724 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10724 Others 2022-04-11 07:38:57 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6906 6906 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10725 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10725 Others 2022-04-08 17:00:26 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6906 6906 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10726 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10726 Others 2022-04-08 17:00:48 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6906 6906 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10727 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10727 Others 2022-04-11 07:39:11 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6905 6905 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10728 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10728 Frontal face 2022-04-08 17:33:11 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6905 6905 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10729 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10729 Limbs 2022-04-08 17:33:23 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6905 6905 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10730 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10730 Limbs 2022-04-11 07:39:26 UTC "" "" 2 3 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10926 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10926 Profile 2022-04-27 15:38:34 UTC "" "" 5 5 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10928 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10928 Frontal face 2022-04-27 15:50:37 UTC "" "" 4 10 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6908 6908 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_10930 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 10930 Frontal face 2022-04-27 15:54:51 UTC "" "" 6 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/7118 7118 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11260 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 11260 Frontal face 2022-05-18 08:41:36 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/7118 7118 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11261 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 11261 Frontal face 2022-05-18 08:41:58 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/7118 7118 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11262 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 11262 Frontal face 2022-05-18 08:42:16 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/7118 7118 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11263 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 11263 Frontal face 2022-05-18 08:42:48 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/7118 7118 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_11264 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 11264 Medical information 2022-05-18 08:43:11 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6873 6873 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14101 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 14101 Frontal face 2023-03-21 11:33:18 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6873 6873 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14102 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 14102 Frontal face 2023-03-21 11:33:30 UTC "" "" 0 0 "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/6873 6873 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_14103 female MAGEL2 http://identifiers.org/ncbigene/54551 "" "" 14103 Frontal face 2023-03-21 11:33:50 UTC "" "" 0 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/7 7 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8 female "" "" African Ghana 8 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/7 7 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_8 female "" "" African Ghana 8 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 8 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/72 72 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_92 male "" "" "" Argentinian 92 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/72 72 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_92 male "" "" "" Argentinian 92 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/72 72 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_93 male "" "" "" Argentinian 93 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/72 72 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_93 male "" "" "" Argentinian 93 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/73 73 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_94 female "" "" "" Argentinian 94 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 8 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/73 73 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_94 female "" "" "" Argentinian 94 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 8 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/73 73 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_95 female "" "" "" Argentinian 95 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 8 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/73 73 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_95 female "" "" "" Argentinian 95 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 8 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11043 male "" "" Caucasian "" 11043 Frontal face 2022-04-29 03:45:04 UTC "" "" 0 1 4 weeks old NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11043 male "" "" Caucasian "" 11043 Frontal face 2022-04-29 03:45:04 UTC "" "" 0 1 4 weeks old NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11044 male "" "" Caucasian "" 11044 Frontal face 2022-04-29 03:45:26 UTC "" "" 0 1 4,5 weeks old NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11044 male "" "" Caucasian "" 11044 Frontal face 2022-04-29 03:45:26 UTC "" "" 0 1 4,5 weeks old NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11045 male "" "" Caucasian "" 11045 Frontal face 2022-04-29 03:46:00 UTC "" "" 0 2 8 weeks old NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11045 male "" "" Caucasian "" 11045 Frontal face 2022-04-29 03:46:00 UTC "" "" 0 2 8 weeks old NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11046 male "" "" Caucasian "" 11046 Frontal face 2022-04-29 03:46:18 UTC "" "" 0 2 10 weeks old NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11046 male "" "" Caucasian "" 11046 Frontal face 2022-04-29 03:46:18 UTC "" "" 0 2 10 weeks old NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11047 male "" "" Caucasian "" 11047 Frontal face 2022-04-29 03:47:02 UTC "" "" 0 3 13 weeks old NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11047 male "" "" Caucasian "" 11047 Frontal face 2022-04-29 03:47:02 UTC "" "" 0 3 13 weeks old NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11048 male "" "" Caucasian "" 11048 Frontal face 2022-04-29 03:48:04 UTC "" "" 0 6 16 weeks old NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11048 male "" "" Caucasian "" 11048 Frontal face 2022-04-29 03:48:04 UTC "" "" 0 6 16 weeks old NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11049 male "" "" Caucasian "" 11049 Frontal face 2022-04-29 03:48:34 UTC "" "" 0 0 28 days old NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11049 male "" "" Caucasian "" 11049 Frontal face 2022-04-29 03:48:34 UTC "" "" 0 0 28 days old NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11051 male "" "" Caucasian "" 11051 Frontal face 2022-04-29 03:49:35 UTC "" "" 0 7 31 weeks old NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6910 6910 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11051 male "" "" Caucasian "" 11051 Frontal face 2022-04-29 03:49:35 UTC "" "" 0 7 31 weeks old NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11068 female "" "" Caucasian "" 11068 Frontal face 2022-05-02 11:19:16 UTC "" "" 0 1 15 days old NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11068 female "" "" Caucasian "" 11068 Frontal face 2022-05-02 11:19:16 UTC "" "" 0 1 15 days old NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11069 female "" "" Caucasian "" 11069 Frontal face 2022-05-02 11:21:18 UTC "" "" 0 2 2 months NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11069 female "" "" Caucasian "" 11069 Frontal face 2022-05-02 11:21:18 UTC "" "" 0 2 2 months NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11073 male "" "" Caucasian "" 11073 Others 2022-05-03 04:07:54 UTC "" "" 0 0 newborn NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11073 male "" "" Caucasian "" 11073 Others 2022-05-03 04:07:54 UTC "" "" 0 0 newborn NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7075 7075 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11177 male "" "" Caucasian "" 11177 Frontal face 2022-05-14 01:34:13 UTC "" "" 3 8 Prader Willi Syndrome via UPD NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7075 7075 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11177 male "" "" Caucasian "" 11177 Frontal face 2022-05-14 01:34:13 UTC "" "" 3 8 Prader Willi Syndrome via UPD NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11183 female "" "" Caucasian "" 11183 Frontal face 2022-05-15 04:22:15 UTC "" "" 0 1 1,5 months NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11183 female "" "" Caucasian "" 11183 Frontal face 2022-05-15 04:22:15 UTC "" "" 0 1 1,5 months NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11225 female "" "" Caucasian "" 11225 Frontal face 2022-05-17 07:24:43 UTC "" "" 0 0 4.11.2021 NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11225 female "" "" Caucasian "" 11225 Frontal face 2022-05-17 07:24:43 UTC "" "" 0 0 4.11.2021 NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11226 female "" "" Caucasian "" 11226 Frontal face 2022-05-17 07:25:14 UTC "" "" 0 0 6.9.2021 NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11226 female "" "" Caucasian "" 11226 Frontal face 2022-05-17 07:25:14 UTC "" "" 0 0 6.9.2021 NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11227 female "" "" Caucasian "" 11227 Frontal face 2022-05-17 07:25:31 UTC "" "" 0 0 9.11.2021 NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11227 female "" "" Caucasian "" 11227 Frontal face 2022-05-17 07:25:31 UTC "" "" 0 0 9.11.2021 NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11228 female "" "" Caucasian "" 11228 Frontal face 2022-05-17 07:25:55 UTC "" "" 0 0 10.3.2022 NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11228 female "" "" Caucasian "" 11228 Frontal face 2022-05-17 07:25:55 UTC "" "" 0 0 10.3.2022 NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11229 female "" "" Caucasian "" 11229 Frontal face 2022-05-17 07:26:07 UTC "" "" 0 0 11.5.2022 NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11229 female "" "" Caucasian "" 11229 Frontal face 2022-05-17 07:26:07 UTC "" "" 0 0 11.5.2022 NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11230 female "" "" Caucasian "" 11230 Frontal face 2022-05-17 07:26:27 UTC "" "" 0 0 22.3.2022 NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11230 female "" "" Caucasian "" 11230 Frontal face 2022-05-17 07:26:27 UTC "" "" 0 0 22.3.2022 NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11231 female "" "" Caucasian "" 11231 Frontal face 2022-05-17 07:26:48 UTC "" "" 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MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7066 7066 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11065 male "" "" Caucasian "" 11065 Frontal face 2022-05-02 10:49:04 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7066 7066 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11066 male "" "" Caucasian "" 11066 Frontal face 2022-05-02 10:49:14 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7066 7066 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11066 male "" "" Caucasian "" 11066 Frontal face 2022-05-02 10:49:14 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7066 7066 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11067 male "" "" Caucasian "" 11067 Frontal face 2022-05-02 10:49:24 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7066 7066 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11067 male "" "" Caucasian "" 11067 Frontal face 2022-05-02 10:49:24 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11070 female "" "" Caucasian "" 11070 Frontal face 2022-05-02 11:22:28 UTC "" "" 0 2 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11070 female "" "" Caucasian "" 11070 Frontal face 2022-05-02 11:22:28 UTC "" "" 0 2 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11071 female "" "" Caucasian "" 11071 Frontal face 2022-05-02 11:24:38 UTC "" "" 0 6 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11071 female "" "" Caucasian "" 11071 Frontal face 2022-05-02 11:24:38 UTC "" "" 0 6 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11072 female "" "" Caucasian "" 11072 Frontal face 2022-05-02 11:27:10 UTC "" "" 1 3 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11072 female "" "" Caucasian "" 11072 Frontal face 2022-05-02 11:27:10 UTC "" "" 1 3 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11074 male "" "" Caucasian "" 11074 Frontal face 2022-05-03 04:08:20 UTC "" "" 14 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11074 male "" "" Caucasian "" 11074 Frontal face 2022-05-03 04:08:20 UTC "" "" 14 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11075 male "" "" Caucasian "" 11075 Profile 2023-05-19 12:13:44 UTC "" "" 19 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11075 male "" "" Caucasian "" 11075 Profile 2023-05-19 12:13:44 UTC "" "" 19 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11076 male "" "" Caucasian "" 11076 Frontal face 2022-05-03 04:08:50 UTC "" "" 22 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11076 male "" "" Caucasian "" 11076 Frontal face 2022-05-03 04:08:50 UTC "" "" 22 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11077 male "" "" Caucasian "" 11077 Frontal face 2022-05-03 04:09:11 UTC "" "" 23 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11077 male "" "" Caucasian "" 11077 Frontal face 2022-05-03 04:09:11 UTC "" "" 23 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11078 male "" "" Caucasian "" 11078 Lab results (genetic testing) 2022-05-03 04:10:42 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11078 male "" "" Caucasian "" 11078 Lab results (genetic testing) 2022-05-03 04:10:42 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11079 male "" "" Caucasian "" 11079 Lab results (genetic testing) 2022-05-03 04:10:56 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11079 male "" "" Caucasian "" 11079 Lab results (genetic testing) 2022-05-03 04:10:56 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11080 male "" "" Caucasian "" 11080 Lab results (genetic testing) 2022-05-03 04:11:19 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11080 male "" "" Caucasian "" 11080 Lab results (genetic testing) 2022-05-03 04:11:19 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11081 male "" "" Caucasian "" 11081 Frontal face 2022-05-03 08:07:48 UTC "" "" 15 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7062 7062 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11081 male "" "" Caucasian "" 11081 Frontal face 2022-05-03 08:07:48 UTC "" "" 15 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7069 7069 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11133 male "" "" Caucasian "" 11133 Frontal face 2022-05-13 03:34:38 UTC "" "" 1 2 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7069 7069 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11133 male "" "" Caucasian "" 11133 Frontal face 2022-05-13 03:34:38 UTC "" "" 1 2 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11134 female "" "" Caucasian "" 11134 Frontal face 2022-05-13 03:44:30 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11134 female "" "" Caucasian "" 11134 Frontal face 2022-05-13 03:44:30 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11135 female "" "" Caucasian "" 11135 Frontal face 2022-05-13 03:45:03 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11135 female "" "" Caucasian "" 11135 Frontal face 2022-05-13 03:45:03 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11136 female "" "" Caucasian "" 11136 Frontal face 2022-05-13 03:45:27 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11136 female "" "" Caucasian "" 11136 Frontal face 2022-05-13 03:45:27 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11137 female "" "" Caucasian "" 11137 Frontal face 2022-05-13 03:45:56 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11137 female "" "" Caucasian "" 11137 Frontal face 2022-05-13 03:45:56 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11138 female "" "" Caucasian "" 11138 Frontal face 2022-05-13 03:46:10 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11138 female "" "" Caucasian "" 11138 Frontal face 2022-05-13 03:46:10 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11139 female "" "" Caucasian "" 11139 Medical information 2022-05-13 03:46:17 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/6909 6909 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11139 female "" "" Caucasian "" 11139 Medical information 2022-05-13 03:46:17 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7075 7075 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11178 male "" "" Caucasian "" 11178 Frontal face 2022-05-15 04:09:56 UTC "" "" 2 10 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7075 7075 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11178 male "" "" Caucasian "" 11178 Frontal face 2022-05-15 04:09:56 UTC "" "" 2 10 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7075 7075 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11180 male "" "" Caucasian "" 11180 Frontal face 2022-05-15 04:09:48 UTC "" "" 5 7 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7075 7075 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11180 male "" "" Caucasian "" 11180 Frontal face 2022-05-15 04:09:48 UTC "" "" 5 7 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11184 female "" "" Caucasian "" 11184 Frontal face 2022-05-15 04:22:47 UTC "" "" 1 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11184 female "" "" Caucasian "" 11184 Frontal face 2022-05-15 04:22:47 UTC "" "" 1 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11185 female "" "" Caucasian "" 11185 Frontal face 2022-05-15 04:23:08 UTC "" "" 1 1 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11185 female "" "" Caucasian "" 11185 Frontal face 2022-05-15 04:23:08 UTC "" "" 1 1 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11186 female "" "" Caucasian "" 11186 Frontal face 2022-05-15 04:23:36 UTC "" "" 1 2 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11186 female "" "" Caucasian "" 11186 Frontal face 2022-05-15 04:23:36 UTC "" "" 1 2 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11187 female "" "" Caucasian "" 11187 Frontal face 2022-05-15 04:23:59 UTC "" "" 0 1 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11187 female "" "" Caucasian "" 11187 Frontal face 2022-05-15 04:23:59 UTC "" "" 0 1 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11188 female "" "" Caucasian "" 11188 Frontal face 2022-05-15 04:24:12 UTC "" "" 2 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11188 female "" "" Caucasian "" 11188 Frontal face 2022-05-15 04:24:12 UTC "" "" 2 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11189 female "" "" Caucasian "" 11189 Frontal face 2022-05-15 04:24:30 UTC "" "" 3 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7076 7076 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11189 female "" "" Caucasian "" 11189 Frontal face 2022-05-15 04:24:30 UTC "" "" 3 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11224 female "" "" Caucasian "" 11224 Medical information 2022-05-17 07:24:06 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7059 7059 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11224 female "" "" Caucasian "" 11224 Medical information 2022-05-17 07:24:06 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7124 7124 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11265 male "" "" Caucasian "" 11265 Frontal face 2022-05-19 11:55:30 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7124 7124 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11265 male "" "" Caucasian "" 11265 Frontal face 2022-05-19 11:55:30 UTC "" "" 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11269 male "" "" Caucasian, European "" 11269 Frontal face 2022-05-20 16:02:24 UTC "" "" 1 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11269 male "" "" Caucasian, European "" 11269 Frontal face 2022-05-20 16:02:24 UTC "" "" 1 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11270 male "" "" Caucasian, European "" 11270 Frontal face 2022-05-20 16:03:10 UTC "" "" 10 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11270 male "" "" Caucasian, European "" 11270 Frontal face 2022-05-20 16:03:10 UTC "" "" 10 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11271 male "" "" Caucasian, European "" 11271 Frontal face 2022-05-20 16:03:52 UTC "" "" 14 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11271 male "" "" Caucasian, European "" 11271 Frontal face 2022-05-20 16:03:52 UTC "" "" 14 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11272 male "" "" Caucasian, European "" 11272 Frontal face 2022-05-20 16:04:18 UTC "" "" 11 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11272 male "" "" Caucasian, European "" 11272 Frontal face 2022-05-20 16:04:18 UTC "" "" 11 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11273 male "" "" Caucasian, European "" 11273 Frontal face 2022-05-20 16:04:52 UTC "" "" 14 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11273 male "" "" Caucasian, European "" 11273 Frontal face 2022-05-20 16:04:52 UTC "" "" 14 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11274 male "" "" Caucasian, European "" 11274 Frontal face 2022-05-20 16:05:54 UTC "" "" 12 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11274 male "" "" Caucasian, European "" 11274 Frontal face 2022-05-20 16:05:54 UTC "" "" 12 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11275 male "" "" Caucasian, European "" 11275 Frontal face 2022-05-20 16:10:26 UTC "" "" 14 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11275 male "" "" Caucasian, European "" 11275 Frontal face 2022-05-20 16:10:26 UTC "" "" 14 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11276 male "" "" Caucasian, European "" 11276 Frontal face 2022-05-20 16:10:46 UTC "" "" 11 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11276 male "" "" Caucasian, European "" 11276 Frontal face 2022-05-20 16:10:46 UTC "" "" 11 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11277 male "" "" Caucasian, European "" 11277 Frontal face 2022-05-20 16:11:46 UTC "" "" 13 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11277 male "" "" Caucasian, European "" 11277 Frontal face 2022-05-20 16:11:46 UTC "" "" 13 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11278 male "" "" Caucasian, European "" 11278 Frontal face 2022-05-20 16:12:08 UTC "" "" 12 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11278 male "" "" Caucasian, European "" 11278 Frontal face 2022-05-20 16:12:08 UTC "" "" 12 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11279 male "" "" Caucasian, European "" 11279 Frontal face 2022-05-20 16:12:29 UTC "" "" 10 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11279 male "" "" Caucasian, European "" 11279 Frontal face 2022-05-20 16:12:29 UTC "" "" 10 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11280 male "" "" Caucasian, European "" 11280 Medical information 2022-05-22 14:29:15 UTC "" "" 14 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11280 male "" "" Caucasian, European "" 11280 Medical information 2022-05-22 14:29:15 UTC "" "" 14 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11281 male "" "" Caucasian, European "" 11281 Frontal face 2022-05-20 16:13:46 UTC "" "" 3 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11281 male "" "" Caucasian, European "" 11281 Frontal face 2022-05-20 16:13:46 UTC "" "" 3 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11282 male "" "" Caucasian, European "" 11282 Frontal face 2022-05-20 16:14:40 UTC "" "" 5 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11282 male "" "" Caucasian, European "" 11282 Frontal face 2022-05-20 16:14:40 UTC "" "" 5 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11283 male "" "" Caucasian, European "" 11283 Frontal face 2022-05-20 16:15:10 UTC "" "" 5 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11283 male "" "" Caucasian, European "" 11283 Frontal face 2022-05-20 16:15:10 UTC "" "" 5 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11284 male "" "" Caucasian, European "" 11284 Frontal face 2022-05-20 16:15:30 UTC "" "" 1 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11284 male "" "" Caucasian, European "" 11284 Frontal face 2022-05-20 16:15:30 UTC "" "" 1 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11285 male "" "" Caucasian, European "" 11285 Frontal face 2022-05-20 16:16:02 UTC "" "" 6 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11285 male "" "" Caucasian, European "" 11285 Frontal face 2022-05-20 16:16:02 UTC "" "" 6 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11286 male "" "" Caucasian, European "" 11286 Profile 2022-05-20 16:26:24 UTC "" "" 6 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11286 male "" "" Caucasian, European "" 11286 Profile 2022-05-20 16:26:24 UTC "" "" 6 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11287 male "" "" Caucasian, European "" 11287 Frontal face 2022-05-20 16:18:04 UTC "" "" 8 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11287 male "" "" Caucasian, European "" 11287 Frontal face 2022-05-20 16:18:04 UTC "" "" 8 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11288 male "" "" Caucasian, European "" 11288 Frontal face 2022-05-20 16:18:37 UTC "" "" 7 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11288 male "" "" Caucasian, European "" 11288 Frontal face 2022-05-20 16:18:37 UTC "" "" 7 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11289 male "" "" Caucasian, European "" 11289 Frontal face 2022-05-20 16:19:04 UTC "" "" 8 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11289 male "" "" Caucasian, European "" 11289 Frontal face 2022-05-20 16:19:04 UTC "" "" 8 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11290 male "" "" Caucasian, European "" 11290 Frontal face 2022-05-20 16:20:07 UTC "" "" 9 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11290 male "" "" Caucasian, European "" 11290 Frontal face 2022-05-20 16:20:07 UTC "" "" 9 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11291 male "" "" Caucasian, European "" 11291 Frontal face 2022-05-20 16:22:27 UTC "" "" 7 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11291 male "" "" Caucasian, European "" 11291 Frontal face 2022-05-20 16:22:27 UTC "" "" 7 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11292 male "" "" Caucasian, European "" 11292 Frontal face 2022-05-20 16:23:11 UTC "" "" 9 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11292 male "" "" Caucasian, European "" 11292 Frontal face 2022-05-20 16:23:11 UTC "" "" 9 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11293 male "" "" Caucasian, European "" 11293 Profile 2022-05-20 16:26:43 UTC "" "" 4 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11293 male "" "" Caucasian, European "" 11293 Profile 2022-05-20 16:26:43 UTC "" "" 4 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11294 male "" "" Caucasian, European "" 11294 Frontal face 2022-05-20 16:23:41 UTC "" "" 4 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11294 male "" "" Caucasian, European "" 11294 Frontal face 2022-05-20 16:23:41 UTC "" "" 4 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11295 male "" "" Caucasian, European "" 11295 Frontal face 2022-05-20 16:24:04 UTC "" "" 2 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11295 male "" "" Caucasian, European "" 11295 Frontal face 2022-05-20 16:24:04 UTC "" "" 2 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11296 male "" "" Caucasian, European "" 11296 Frontal face 2022-05-20 16:24:15 UTC "" "" 2 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11296 male "" "" Caucasian, European "" 11296 Frontal face 2022-05-20 16:24:15 UTC "" "" 2 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11297 male "" "" Caucasian, European "" 11297 Frontal face 2022-05-20 16:24:45 UTC "" "" 1 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11297 male "" "" Caucasian, European "" 11297 Frontal face 2022-05-20 16:24:45 UTC "" "" 1 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11298 male "" "" Caucasian, European "" 11298 Frontal face 2022-05-20 16:25:06 UTC "" "" 1 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7120 7120 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11298 male "" "" Caucasian, European "" 11298 Frontal face 2022-05-20 16:25:06 UTC "" "" 1 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11317 female "" "" Caucasian "" 11317 Frontal face 2022-05-31 07:40:16 UTC "" "" 3 5 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11317 female "" "" Caucasian "" 11317 Frontal face 2022-05-31 07:40:16 UTC "" "" 3 5 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11318 female "" "" Caucasian "" 11318 Frontal face 2022-05-31 07:43:21 UTC "" "" 3 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7065 7065 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11318 female "" "" Caucasian "" 11318 Frontal face 2022-05-31 07:43:21 UTC "" "" 3 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11334 male "" "" Caucasian "" 11334 Frontal face 2022-06-04 04:34:37 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11334 male "" "" Caucasian "" 11334 Frontal face 2022-06-04 04:34:37 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11335 male "" "" Caucasian "" 11335 Profile 2023-01-03 08:41:27 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11335 male "" "" Caucasian "" 11335 Profile 2023-01-03 08:41:27 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11336 male "" "" Caucasian "" 11336 Profile 2023-01-03 08:44:50 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11336 male "" "" Caucasian "" 11336 Profile 2023-01-03 08:44:50 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11337 male "" "" Caucasian "" 11337 Frontal face 2022-06-04 04:35:57 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11337 male "" "" Caucasian "" 11337 Frontal face 2022-06-04 04:35:57 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11338 male "" "" Caucasian "" 11338 Frontal face 2022-06-04 04:36:15 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11338 male "" "" Caucasian "" 11338 Frontal face 2022-06-04 04:36:15 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11339 male "" "" Caucasian "" 11339 Frontal face 2022-06-04 04:36:39 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11339 male "" "" Caucasian "" 11339 Frontal face 2022-06-04 04:36:39 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11340 male "" "" Caucasian "" 11340 Profile 2023-01-03 08:41:09 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11340 male "" "" Caucasian "" 11340 Profile 2023-01-03 08:41:09 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11341 male "" "" Caucasian "" 11341 Profile 2023-01-03 08:45:56 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11341 male "" "" Caucasian "" 11341 Profile 2023-01-03 08:45:56 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11342 male "" "" Caucasian "" 11342 Frontal face 2022-06-04 04:37:30 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11342 male "" "" Caucasian "" 11342 Frontal face 2022-06-04 04:37:30 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11343 male "" "" Caucasian "" 11343 Frontal face 2022-06-04 04:37:43 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11343 male "" "" Caucasian "" 11343 Frontal face 2022-06-04 04:37:43 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11344 male "" "" Caucasian "" 11344 Frontal face 2022-06-04 04:38:00 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11344 male "" "" Caucasian "" 11344 Frontal face 2022-06-04 04:38:00 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11345 male "" "" Caucasian "" 11345 Profile 2023-01-03 08:45:39 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11345 male "" "" Caucasian "" 11345 Profile 2023-01-03 08:45:39 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11346 male "" "" Caucasian "" 11346 Profile 2023-01-03 08:46:57 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11346 male "" "" Caucasian "" 11346 Profile 2023-01-03 08:46:57 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11347 male "" "" Caucasian "" 11347 Frontal face 2022-06-04 04:38:53 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11347 male "" "" Caucasian "" 11347 Frontal face 2022-06-04 04:38:53 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11348 male "" "" Caucasian "" 11348 Frontal face 2022-06-04 04:39:14 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7079 7079 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11348 male "" "" Caucasian "" 11348 Frontal face 2022-06-04 04:39:14 UTC "" "" 0 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME 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SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11502 male "" "" Caucasian, European "" 11502 Frontal face 2022-07-17 18:00:28 UTC "" "" 7 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11502 male "" "" Caucasian, European "" 11502 Frontal face 2022-07-17 18:00:28 UTC "" "" 7 0 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11503 male "" "" Caucasian, European "" 11503 Frontal face 2022-07-17 18:01:51 UTC "" "" 5 7 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11503 male "" "" Caucasian, European "" 11503 Frontal face 2022-07-17 18:01:51 UTC "" "" 5 7 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11504 male "" "" Caucasian, European "" 11504 Frontal face 2022-07-17 18:08:52 UTC "" "" 2 9 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11504 male "" "" Caucasian, European "" 11504 Frontal face 2022-07-17 18:08:52 UTC "" "" 2 9 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11505 male "" "" Caucasian, European "" 11505 Frontal face 2022-07-17 18:09:21 UTC "" "" 6 10 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11505 male "" "" Caucasian, European "" 11505 Frontal face 2022-07-17 18:09:21 UTC "" "" 6 10 "" NANDO:1200687 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11506 male "" "" Caucasian, European "" 11506 Frontal face 2022-09-15 15:17:23 UTC "" "" 4 0 "" NANDO:2200954 MONDO:0008434 OMIM:182290 https://db.gestaltmatcher.org/patients/7122 7122 SMITH-MAGENIS SYNDROME https://db.gestaltmatcher.org/patients/image_11506 male "" "" Caucasian, European "" 11506 Frontal face 2022-09-15 15:17:23 UTC "" "" 4 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7056 7056 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14090 female "" "" Caucasian "" 14090 Frontal face 2023-03-20 10:59:54 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7056 7056 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14090 female "" "" Caucasian "" 14090 Frontal face 2023-03-20 10:59:54 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7056 7056 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14091 female "" "" Caucasian "" 14091 Frontal face 2023-03-20 11:00:04 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7056 7056 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14091 female "" "" Caucasian "" 14091 Frontal face 2023-03-20 11:00:04 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14112 female "" "" Caucasian "" 14112 Frontal face 2023-03-22 10:03:07 UTC "" "" 1 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14112 female "" "" Caucasian "" 14112 Frontal face 2023-03-22 10:03:07 UTC "" "" 1 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14113 female "" "" Caucasian "" 14113 Frontal face 2023-03-22 10:04:51 UTC "" "" 2 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14113 female "" "" Caucasian "" 14113 Frontal face 2023-03-22 10:04:51 UTC "" "" 2 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14115 female "" "" Caucasian "" 14115 Frontal face 2023-03-22 10:05:37 UTC "" "" 0 3 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14115 female "" "" Caucasian "" 14115 Frontal face 2023-03-22 10:05:37 UTC "" "" 0 3 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14116 female "" "" Caucasian "" 14116 Frontal face 2023-03-22 10:05:54 UTC "" "" 3 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14116 female "" "" Caucasian "" 14116 Frontal face 2023-03-22 10:05:54 UTC "" "" 3 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14117 female "" "" Caucasian "" 14117 Frontal face 2023-03-22 10:06:07 UTC "" "" 4 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14117 female "" "" Caucasian "" 14117 Frontal face 2023-03-22 10:06:07 UTC "" "" 4 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14118 female "" "" Caucasian "" 14118 Medical information 2023-03-22 10:08:57 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14118 female "" "" Caucasian "" 14118 Medical information 2023-03-22 10:08:57 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14119 female "" "" Caucasian "" 14119 Medical information 2023-03-22 10:09:39 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14119 female "" "" Caucasian "" 14119 Medical information 2023-03-22 10:09:39 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14120 female "" "" Caucasian "" 14120 Medical information 2023-03-22 10:09:57 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7064 7064 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_14120 female "" "" Caucasian "" 14120 Medical information 2023-03-22 10:09:57 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7067 7067 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11116 female "" "" "" "" 11116 Frontal face 2022-05-04 13:20:22 UTC "" "" 0 2 1 month corrected age NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7067 7067 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11116 female "" "" "" "" 11116 Frontal face 2022-05-04 13:20:22 UTC "" "" 0 2 1 month corrected age NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7067 7067 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11114 female "" "" "" "" 11114 Lab results (genetic testing) 2022-05-06 05:35:00 UTC "" "" 1 7 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7067 7067 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11114 female "" "" "" "" 11114 Lab results (genetic testing) 2022-05-06 05:35:00 UTC "" "" 1 7 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7067 7067 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11115 female "" "" "" "" 11115 Frontal face 2022-05-06 05:35:56 UTC "" "" 1 6 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7067 7067 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11115 female "" "" "" "" 11115 Frontal face 2022-05-06 05:35:56 UTC "" "" 1 6 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7070 7070 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11117 male "" "" "" "" 11117 Frontal face 2022-05-05 03:48:29 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7070 7070 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11117 male "" "" "" "" 11117 Frontal face 2022-05-05 03:48:29 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7070 7070 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11118 male "" "" "" "" 11118 Frontal face 2022-05-05 03:48:42 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7070 7070 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11118 male "" "" "" "" 11118 Frontal face 2022-05-05 03:48:42 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7070 7070 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11119 male "" "" "" "" 11119 Frontal face 2022-05-05 03:48:55 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7070 7070 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11119 male "" "" "" "" 11119 Frontal face 2022-05-05 03:48:55 UTC "" "" 0 0 "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7070 7070 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11120 male "" "" "" "" 11120 Medical information 2022-05-08 05:01:05 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7070 7070 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11120 male "" "" "" "" 11120 Medical information 2022-05-08 05:01:05 UTC "" "" 0 0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7073 7073 PRADER-WILLI SYNDROME 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0 "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/7068 7068 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_11778 male "" "" "" "" 11778 Frontal face 2022-09-09 09:55:59 UTC "" "" 9 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7404 7404 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11829 male FMR1 http://identifiers.org/ncbigene/2332 European Portuguese 11829 Frontal face 2022-09-15 13:02:54 UTC 29178241 http://rdf.ncbi.nlm.nih.gov/pubmed/29178241 10 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7404 7404 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11829 male FMR1 http://identifiers.org/ncbigene/2332 European Portuguese 11829 Frontal face 2022-09-15 13:02:54 UTC 29178241 http://rdf.ncbi.nlm.nih.gov/pubmed/29178241 10 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7404 7404 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11830 male FMR1 http://identifiers.org/ncbigene/2332 European Portuguese 11830 Profile 2022-09-15 13:03:11 UTC 29178241 http://rdf.ncbi.nlm.nih.gov/pubmed/29178241 10 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7404 7404 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11830 male FMR1 http://identifiers.org/ncbigene/2332 European Portuguese 11830 Profile 2022-09-15 13:03:11 UTC 29178241 http://rdf.ncbi.nlm.nih.gov/pubmed/29178241 10 0 "" NANDO:1200111 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12227 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12227 Frontal face 2022-09-30 11:09:29 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 0 5 "" NANDO:2200552 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12227 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12227 Frontal face 2022-09-30 11:09:29 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 0 5 "" NANDO:2200552 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12228 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12228 Frontal face 2022-09-30 11:09:51 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 2 0 "" NANDO:1200111 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12228 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12228 Frontal face 2022-09-30 11:09:51 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 2 0 "" NANDO:1200111 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12229 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12229 Frontal face 2022-09-30 11:10:01 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 4 0 "" NANDO:2200552 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12229 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12229 Frontal face 2022-09-30 11:10:01 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 4 0 "" NANDO:1200111 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12230 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12230 Frontal face 2022-09-30 11:10:22 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 6 0 "" NANDO:2200552 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12230 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12230 Frontal face 2022-09-30 11:10:22 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 6 0 "" NANDO:1200111 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12231 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12231 Frontal face 2022-09-30 11:10:33 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 9 0 "" NANDO:2200552 MONDO:0009662 OMIM:253220 https://db.gestaltmatcher.org/patients/7632 7632 MUCOPOLYSACCHARIDOSIS, TYPE VII https://db.gestaltmatcher.org/patients/image_12231 female GUSB http://identifiers.org/ncbigene/2990 Asian Thai 12231 Frontal face 2022-09-30 11:10:33 UTC 30653816 http://rdf.ncbi.nlm.nih.gov/pubmed/30653816 9 0 "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/7661 7661 STICKLER SYNDROME, TYPE I https://db.gestaltmatcher.org/patients/image_12259 male COL2A1 http://identifiers.org/ncbigene/1280 Asian - East Mongolian 12259 Frontal face 2022-10-01 11:56:50 UTC 34405586 http://rdf.ncbi.nlm.nih.gov/pubmed/34405586 0 0 "" NANDO:1201040 MONDO:0010184 OMIM:277400 https://db.gestaltmatcher.org/patients/7841 7841 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE https://db.gestaltmatcher.org/patients/image_12488 female MMACHC http://identifiers.org/ncbigene/25974 Asian - East Han Chinese 12488 Frontal face 2022-10-10 15:57:26 UTC 35709987 http://rdf.ncbi.nlm.nih.gov/pubmed/35709987 2 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/7841 7841 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_12488 female MMACHC http://identifiers.org/ncbigene/25974 Asian - East Han Chinese 12488 Frontal face 2022-10-10 15:57:26 UTC 35709987 http://rdf.ncbi.nlm.nih.gov/pubmed/35709987 2 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/7841 7841 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_12488 female ZEB2 http://identifiers.org/ncbigene/9839 Asian - East Han Chinese 12488 Frontal face 2022-10-10 15:57:26 UTC 35709987 http://rdf.ncbi.nlm.nih.gov/pubmed/35709987 2 0 "" NANDO:1201040 MONDO:0010184 OMIM:277400 https://db.gestaltmatcher.org/patients/7841 7841 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE https://db.gestaltmatcher.org/patients/image_12488 female ZEB2 http://identifiers.org/ncbigene/9839 Asian - East Han Chinese 12488 Frontal face 2022-10-10 15:57:26 UTC 35709987 http://rdf.ncbi.nlm.nih.gov/pubmed/35709987 2 0 "" NANDO:2201107 MONDO:0010184 OMIM:277400 https://db.gestaltmatcher.org/patients/7841 7841 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE https://db.gestaltmatcher.org/patients/image_12488 female ZEB2 http://identifiers.org/ncbigene/9839 Asian - East Han Chinese 12488 Frontal face 2022-10-10 15:57:26 UTC 35709987 http://rdf.ncbi.nlm.nih.gov/pubmed/35709987 2 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/7841 7841 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_12488 female MMACHC http://identifiers.org/ncbigene/25974 Asian - East Han Chinese 12488 Frontal face 2022-10-10 15:57:26 UTC 35709987 http://rdf.ncbi.nlm.nih.gov/pubmed/35709987 2 0 "" NANDO:2201107 MONDO:0010184 OMIM:277400 https://db.gestaltmatcher.org/patients/7841 7841 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE https://db.gestaltmatcher.org/patients/image_12488 female MMACHC http://identifiers.org/ncbigene/25974 Asian - East Han Chinese 12488 Frontal face 2022-10-10 15:57:26 UTC 35709987 http://rdf.ncbi.nlm.nih.gov/pubmed/35709987 2 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/7841 7841 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_12488 female ZEB2 http://identifiers.org/ncbigene/9839 Asian - East Han Chinese 12488 Frontal face 2022-10-10 15:57:26 UTC 35709987 http://rdf.ncbi.nlm.nih.gov/pubmed/35709987 2 0 "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/7921 7921 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_12612 male ATM http://identifiers.org/ncbigene/472 Asian - East Han Chinese 12612 Frontal face 2022-10-18 11:51:43 UTC 26628246 http://rdf.ncbi.nlm.nih.gov/pubmed/26628246 14 0 "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/7921 7921 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_12612 male ATM http://identifiers.org/ncbigene/472 Asian - East Han Chinese 12612 Frontal face 2022-10-18 11:51:43 UTC 26628246 http://rdf.ncbi.nlm.nih.gov/pubmed/26628246 14 0 "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/7976 7976 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_12694 female KMT2A http://identifiers.org/ncbigene/4297 Caucasian Turkish 12694 Frontal face 2022-10-24 15:14:54 UTC 25574841 http://rdf.ncbi.nlm.nih.gov/pubmed/25574841 1 9 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/765 765 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_955 female AHDC1 http://identifiers.org/ncbigene/27245 Asian South asia 955 Frontal face 2022-02-25 16:29:05 UTC 24791903 http://rdf.ncbi.nlm.nih.gov/pubmed/24791903 4 0 "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/8072 8072 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_12778 female VPS13B http://identifiers.org/ncbigene/157680 African - Sub-Saharan Mixed ancestry 12778 Frontal face 2022-11-15 13:25:01 UTC "" "" 5 0 "" NANDO:1200660 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/8077 8077 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_12783 male RPS6KA3 http://identifiers.org/ncbigene/6197 European South African Afrikaans 12783 Frontal face 2022-11-15 13:22:33 UTC "" "" 6 0 "" NANDO:2200952 MONDO:0010561 OMIM:303600 https://db.gestaltmatcher.org/patients/8077 8077 COFFIN-LOWRY SYNDROME https://db.gestaltmatcher.org/patients/image_12783 male RPS6KA3 http://identifiers.org/ncbigene/6197 European South African Afrikaans 12783 Frontal face 2022-11-15 13:22:33 UTC "" "" 6 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7403 7403 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11828 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 11828 Frontal face 2022-09-15 11:46:34 UTC 28420439 http://rdf.ncbi.nlm.nih.gov/pubmed/28420439 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7403 7403 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11828 unknown FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 11828 Frontal face 2022-09-15 11:46:34 UTC 28420439 http://rdf.ncbi.nlm.nih.gov/pubmed/28420439 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7412 7412 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11867 unknown FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 11867 Frontal face 2022-09-18 13:26:52 UTC 18398441 http://rdf.ncbi.nlm.nih.gov/pubmed/18398441 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7412 7412 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11867 unknown FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 11867 Frontal face 2022-09-18 13:26:52 UTC 18398441 http://rdf.ncbi.nlm.nih.gov/pubmed/18398441 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7413 7413 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11868 unknown FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 11868 Frontal face 2022-09-18 13:30:32 UTC 18398441 http://rdf.ncbi.nlm.nih.gov/pubmed/18398441 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7413 7413 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11868 unknown FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 11868 Frontal face 2022-09-18 13:30:32 UTC 18398441 http://rdf.ncbi.nlm.nih.gov/pubmed/18398441 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7414 7414 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11869 unknown FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 11869 Frontal face 2022-09-18 13:32:03 UTC 18398441 http://rdf.ncbi.nlm.nih.gov/pubmed/18398441 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7414 7414 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11869 unknown FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 11869 Frontal face 2022-09-18 13:32:03 UTC 18398441 http://rdf.ncbi.nlm.nih.gov/pubmed/18398441 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7415 7415 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11870 unknown FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 11870 Frontal face 2022-09-18 13:33:33 UTC 18398441 http://rdf.ncbi.nlm.nih.gov/pubmed/18398441 0 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7415 7415 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11870 unknown FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 11870 Frontal face 2022-09-18 13:33:33 UTC 18398441 http://rdf.ncbi.nlm.nih.gov/pubmed/18398441 0 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7416 7416 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11871 male FMR1 http://identifiers.org/ncbigene/2332 European "" 11871 Frontal face 2022-09-19 11:57:00 UTC 19718005 http://rdf.ncbi.nlm.nih.gov/pubmed/19718005 17 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7416 7416 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_11871 male FMR1 http://identifiers.org/ncbigene/2332 European "" 11871 Frontal face 2022-09-19 11:57:00 UTC 19718005 http://rdf.ncbi.nlm.nih.gov/pubmed/19718005 17 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7563 7563 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_12043 female FMR1 http://identifiers.org/ncbigene/2332 European "" 12043 Frontal face 2022-09-25 16:26:57 UTC 34946857 http://rdf.ncbi.nlm.nih.gov/pubmed/34946857 5 5 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7563 7563 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_12043 female FMR1 http://identifiers.org/ncbigene/2332 European "" 12043 Frontal face 2022-09-25 16:26:57 UTC 34946857 http://rdf.ncbi.nlm.nih.gov/pubmed/34946857 5 5 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7563 7563 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_12043 female PPP2R5D http://identifiers.org/ncbigene/5528 European "" 12043 Frontal face 2022-09-25 16:26:57 UTC 34946857 http://rdf.ncbi.nlm.nih.gov/pubmed/34946857 5 5 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7563 7563 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_12043 female PPP2R5D http://identifiers.org/ncbigene/5528 European "" 12043 Frontal face 2022-09-25 16:26:57 UTC 34946857 http://rdf.ncbi.nlm.nih.gov/pubmed/34946857 5 5 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7563 7563 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_12044 female PPP2R5D http://identifiers.org/ncbigene/5528 European "" 12044 Profile 2022-09-25 16:27:13 UTC 34946857 http://rdf.ncbi.nlm.nih.gov/pubmed/34946857 5 5 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7563 7563 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_12044 female FMR1 http://identifiers.org/ncbigene/2332 European "" 12044 Profile 2022-09-25 16:27:13 UTC 34946857 http://rdf.ncbi.nlm.nih.gov/pubmed/34946857 5 5 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7563 7563 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_12044 female PPP2R5D http://identifiers.org/ncbigene/5528 European "" 12044 Profile 2022-09-25 16:27:13 UTC 34946857 http://rdf.ncbi.nlm.nih.gov/pubmed/34946857 5 5 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7563 7563 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_12044 female FMR1 http://identifiers.org/ncbigene/2332 European "" 12044 Profile 2022-09-25 16:27:13 UTC 34946857 http://rdf.ncbi.nlm.nih.gov/pubmed/34946857 5 5 "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/7630 7630 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_12224 male SPRED1 http://identifiers.org/ncbigene/161742 European "" 12224 Frontal face 2022-09-30 09:38:47 UTC 19443465 http://rdf.ncbi.nlm.nih.gov/pubmed/19443465 26 0 "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/7630 7630 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_12224 male SPRED1 http://identifiers.org/ncbigene/161742 European "" 12224 Frontal face 2022-09-30 09:38:47 UTC 19443465 http://rdf.ncbi.nlm.nih.gov/pubmed/19443465 26 0 "" NANDO:1200765 MONDO:0009919 OMIM:264470 https://db.gestaltmatcher.org/patients/7889 7889 PEROXISOMAL ACYL-CoA OXIDASE DEFICIENCY https://db.gestaltmatcher.org/patients/image_12605 female ACOX1 http://identifiers.org/ncbigene/51 Asian - South/Indian "" 12605 Frontal face 2022-10-17 08:30:38 UTC 33510602 http://rdf.ncbi.nlm.nih.gov/pubmed/33510602 4 0 "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7564 7564 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13863 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 13863 Frontal face 2023-02-13 22:24:42 UTC 18412117 http://rdf.ncbi.nlm.nih.gov/pubmed/18412117 11 0 "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/7564 7564 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_13863 male FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 13863 Frontal face 2023-02-13 22:24:42 UTC 18412117 http://rdf.ncbi.nlm.nih.gov/pubmed/18412117 11 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/763 763 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_953 male AHDC1 http://identifiers.org/ncbigene/27245 Caucasian "" 953 Frontal face 2022-02-25 16:29:02 UTC 27148574 http://rdf.ncbi.nlm.nih.gov/pubmed/27148574 0 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/764 764 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_954 female AHDC1 http://identifiers.org/ncbigene/27245 Caucasian, European "" 954 Frontal face 2023-05-21 13:52:09 UTC 24791903 http://rdf.ncbi.nlm.nih.gov/pubmed/24791903 1 5 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/766 766 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_956 male AHDC1 http://identifiers.org/ncbigene/27245 Caucasian, European "" 956 Frontal face 2022-02-25 16:29:08 UTC 24791903 http://rdf.ncbi.nlm.nih.gov/pubmed/24791903 8 0 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/767 767 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_957 male AHDC1 http://identifiers.org/ncbigene/27245 Caucasian "" 957 Frontal face 2022-02-25 16:29:09 UTC 24791903 http://rdf.ncbi.nlm.nih.gov/pubmed/24791903 1 9 "" NANDO:2201524 MONDO:0014358 OMIM:615829 https://db.gestaltmatcher.org/patients/767 767 XIA-GIBBS SYNDROME https://db.gestaltmatcher.org/patients/image_958 male AHDC1 http://identifiers.org/ncbigene/27245 Caucasian "" 958 Frontal face 2022-02-25 16:29:12 UTC 24791903 http://rdf.ncbi.nlm.nih.gov/pubmed/24791903 9 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/7625 7625 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_12214 female MECP2 http://identifiers.org/ncbigene/4204 European "" 12214 Profile 2022-09-29 20:51:14 UTC "" "" 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/7625 7625 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_12214 female MECP2 http://identifiers.org/ncbigene/4204 European "" 12214 Profile 2022-09-29 20:51:14 UTC "" "" 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/7625 7625 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_12215 female MECP2 http://identifiers.org/ncbigene/4204 European "" 12215 Profile 2022-09-29 20:51:33 UTC "" "" 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/7625 7625 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_12215 female MECP2 http://identifiers.org/ncbigene/4204 European "" 12215 Profile 2022-09-29 20:51:33 UTC "" "" 0 0 "" NANDO:2200825 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/7625 7625 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_12216 female MECP2 http://identifiers.org/ncbigene/4204 European "" 12216 Frontal face 2022-09-29 20:51:55 UTC "" "" 0 0 "" NANDO:1200603 MONDO:0010726 OMIM:312750 https://db.gestaltmatcher.org/patients/7625 7625 RETT SYNDROME https://db.gestaltmatcher.org/patients/image_12216 female MECP2 http://identifiers.org/ncbigene/4204 European "" 12216 Frontal face 2022-09-29 20:51:55 UTC "" "" 0 0 "" NANDO:1201040 MONDO:0010184 OMIM:277400 https://db.gestaltmatcher.org/patients/7807 7807 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE https://db.gestaltmatcher.org/patients/image_12418 unknown MMACHC http://identifiers.org/ncbigene/25974 "" "" 12418 Frontal face 2022-10-02 15:40:01 UTC "" "" "" "" "" NANDO:2201107 MONDO:0010184 OMIM:277400 https://db.gestaltmatcher.org/patients/7807 7807 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblC TYPE https://db.gestaltmatcher.org/patients/image_12418 unknown MMACHC http://identifiers.org/ncbigene/25974 "" "" 12418 Frontal face 2022-10-02 15:40:01 UTC "" "" "" "" "" NANDO:1200226 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/7808 7808 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_12419 unknown NF1 http://identifiers.org/ncbigene/4763 "" "" 12419 Frontal face 2022-10-02 15:40:02 UTC "" "" "" "" "" NANDO:2201003 MONDO:0018975 OMIM:162200 https://db.gestaltmatcher.org/patients/7808 7808 NEUROFIBROMATOSIS, TYPE I https://db.gestaltmatcher.org/patients/image_12419 unknown NF1 http://identifiers.org/ncbigene/4763 "" "" 12419 Frontal face 2022-10-02 15:40:02 UTC "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/8 8 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10 male "" "" African South-Africa 10 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/8 8 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_10 male "" "" African South-Africa 10 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/8 8 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_9 male "" "" African South-Africa 9 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/8 8 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_9 male "" "" African South-Africa 9 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 7 0 "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/8070 8070 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_12776 female "" "" African - Sub-Saharan Mixed ancestry 12776 Frontal face 2022-11-15 13:25:58 UTC "" "" 3 0 "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/8070 8070 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_12776 female "" "" African - Sub-Saharan Mixed ancestry 12776 Frontal face 2022-11-15 13:25:58 UTC "" "" 3 0 "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/8078 8078 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_12784 female "" "" African - Sub-Saharan Mixed ancestry 12784 Frontal face 2022-11-15 13:23:09 UTC "" "" 0 0 "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/8078 8078 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_12784 female "" "" African - Sub-Saharan Mixed ancestry 12784 Frontal face 2022-11-15 13:23:09 UTC "" "" 0 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/77 77 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_100 male "" "" "" Brazilian 100 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 10 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/77 77 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_100 male "" "" "" Brazilian 100 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 10 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/78 78 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_101 male "" "" "" Brazilian 101 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 11 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/78 78 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_101 male "" "" "" Brazilian 101 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 11 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/79 79 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_102 female "" "" "" Brazilian 102 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 7 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/79 79 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_102 female "" "" "" Brazilian 102 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 7 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/80 80 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_103 female "" "" "" Brazilian 103 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/80 80 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_103 female "" "" "" Brazilian 103 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 3 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/81 81 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_104 male "" "" "" Brazilian 104 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/81 81 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_104 male "" "" "" Brazilian 104 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 4 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/74 74 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_96 male "" "" "" Argentinian 96 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/74 74 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_96 male "" "" "" Argentinian 96 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/74 74 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_97 male "" "" "" Argentinian 97 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/74 74 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_97 male "" "" "" Argentinian 97 Profile 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 2 0 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/75 75 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_98 female "" "" "" Brazilian 98 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 10 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/75 75 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_98 female "" "" "" Brazilian 98 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 0 10 "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/76 76 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_99 male "" "" "" Brazilian 99 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 4 "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/76 76 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_99 male "" "" "" Brazilian 99 Frontal face 2022-04-18 21:44:33 UTC 29681090 http://rdf.ncbi.nlm.nih.gov/pubmed/29681090 1 4 "" NANDO:2200979 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/7956 7956 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_12677 male "" "" African - North "" 12677 Frontal face 2022-10-22 05:12:59 UTC "" "" 0 0 "" NANDO:1200961 MONDO:0010035 OMIM:270400 https://db.gestaltmatcher.org/patients/7956 7956 SMITH-LEMLI-OPITZ SYNDROME https://db.gestaltmatcher.org/patients/image_12677 male "" "" African - North "" 12677 Frontal face 2022-10-22 05:12:59 UTC "" "" 0 0 "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/8035 8035 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_12730 male "" "" African - North "" 12730 Frontal face 2022-10-31 18:00:42 UTC "" "" 0 0 "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/8035 8035 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_12731 male "" "" African - North "" 12731 Profile 2023-01-03 09:02:32 UTC "" "" 0 0 "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/8035 8035 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_12732 male "" "" African - North "" 12732 Limbs 2023-01-03 09:02:42 UTC "" "" 0 0 "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/8035 8035 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_12733 male "" "" African - North "" 12733 Limbs 2023-01-03 09:02:50 UTC "" "" 0 0 ""