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:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13379 13379 Stickler syndrome https://db.gestaltmatcher.org/patients/image_23762 male COL9A2 http://identifiers.org/ncbigene/1298 Caucasian consanguineous parents 23762 Profile "" 31090205 http://rdf.ncbi.nlm.nih.gov/pubmed/31090205 "" "" "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13379 13379 Stickler syndrome https://db.gestaltmatcher.org/patients/image_23761 male COL9A2 http://identifiers.org/ncbigene/1298 Caucasian consanguineous parents 23761 Frontal face "" 31090205 http://rdf.ncbi.nlm.nih.gov/pubmed/31090205 "" "" "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13380 13380 Stickler syndrome https://db.gestaltmatcher.org/patients/image_23763 male COL9A3 http://identifiers.org/ncbigene/1299 African, African - North parents first-cousins consanguin 23763 Frontal face "" 24273071 http://rdf.ncbi.nlm.nih.gov/pubmed/24273071 "" "" "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13381 13381 Stickler syndrome https://db.gestaltmatcher.org/patients/image_23764 male COL9A3 http://identifiers.org/ncbigene/1299 African, African - North parents first-cousins consanguin 23764 Frontal face "" 24273071 http://rdf.ncbi.nlm.nih.gov/pubmed/24273071 "" "" "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13381 13381 Stickler syndrome https://db.gestaltmatcher.org/patients/image_23765 male COL9A3 http://identifiers.org/ncbigene/1299 African, African - North parents first-cousins consanguin 23765 Hand X-ray "" 24273071 http://rdf.ncbi.nlm.nih.gov/pubmed/24273071 "" "" "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13382 13382 Stickler syndrome https://db.gestaltmatcher.org/patients/image_23766 female COL9A3 http://identifiers.org/ncbigene/1299 African, African - North parents first-cousins consanguin 23766 Frontal face "" 24273071 http://rdf.ncbi.nlm.nih.gov/pubmed/24273071 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13485 13485 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23995 male ERCC8 http://identifiers.org/ncbigene/1161 Asian - West/Middle Eastern Turkey, Mother and father are first cousins consanguin 23995 MRI "" 29422660 http://rdf.ncbi.nlm.nih.gov/pubmed/29422660 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13485 13485 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23997 male ERCC8 http://identifiers.org/ncbigene/1161 Asian - West/Middle Eastern Turkey, Mother and father are first cousins consanguin 23997 MRI "" 29422660 http://rdf.ncbi.nlm.nih.gov/pubmed/29422660 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13485 13485 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23993 male ERCC8 http://identifiers.org/ncbigene/1161 Asian - West/Middle Eastern Turkey, Mother and father are first cousins consanguin 23993 Frontal face "" 29422660 http://rdf.ncbi.nlm.nih.gov/pubmed/29422660 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13485 13485 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23992 male ERCC8 http://identifiers.org/ncbigene/1161 Asian - West/Middle Eastern Turkey, Mother and father are first cousins consanguin 23992 Frontal face "" 29422660 http://rdf.ncbi.nlm.nih.gov/pubmed/29422660 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13485 13485 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23996 male ERCC8 http://identifiers.org/ncbigene/1161 Asian - West/Middle Eastern Turkey, Mother and father are first cousins consanguin 23996 MRI "" 29422660 http://rdf.ncbi.nlm.nih.gov/pubmed/29422660 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13485 13485 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23994 male ERCC8 http://identifiers.org/ncbigene/1161 Asian - West/Middle Eastern Turkey, Mother and father are first cousins consanguin 23994 MRI "" 29422660 http://rdf.ncbi.nlm.nih.gov/pubmed/29422660 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13486 13486 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23990 male ERCC8 http://identifiers.org/ncbigene/1161 Asian - West/Middle Eastern Turkey, Mother and father are first cousins consanguin 23990 Frontal face "" 29422660 http://rdf.ncbi.nlm.nih.gov/pubmed/29422660 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13486 13486 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23989 male ERCC8 http://identifiers.org/ncbigene/1161 Asian - West/Middle Eastern Turkey, Mother and father are first cousins consanguin 23989 Frontal face "" 29422660 http://rdf.ncbi.nlm.nih.gov/pubmed/29422660 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13486 13486 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23991 male ERCC8 http://identifiers.org/ncbigene/1161 Asian - West/Middle Eastern Turkey, Mother and father are first cousins consanguin 23991 Frontal face "" 29422660 http://rdf.ncbi.nlm.nih.gov/pubmed/29422660 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/14030 14030 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_25329 male NSD1 http://identifiers.org/ncbigene/64324 European - Northwestern Cologne 25329 Frontal face "" "" "" "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/14030 14030 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_25331 male NSD1 http://identifiers.org/ncbigene/64324 European - Northwestern Cologne 25331 Profile "" "" "" "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/14030 14030 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_25328 male NSD1 http://identifiers.org/ncbigene/64324 European - Northwestern Cologne 25328 Frontal face "" "" "" "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/14030 14030 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_25330 male NSD1 http://identifiers.org/ncbigene/64324 European - Northwestern Cologne 25330 Limbs "" "" "" "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/14030 14030 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_25328 male NSD1 http://identifiers.org/ncbigene/64324 European - Northwestern Cologne 25328 Frontal face "" "" "" "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/14030 14030 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_25330 male NSD1 http://identifiers.org/ncbigene/64324 European - Northwestern Cologne 25330 Limbs "" "" "" "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/14030 14030 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_25331 male NSD1 http://identifiers.org/ncbigene/64324 European - Northwestern Cologne 25331 Profile "" "" "" "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/14030 14030 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_25329 male NSD1 http://identifiers.org/ncbigene/64324 European - Northwestern Cologne 25329 Frontal face "" "" "" "" "" "" NANDO:2200894 MONDO:0012429 OMIM:610181 https://db.gestaltmatcher.org/patients/14398 14398 AICARDI-GOUTIERES SYNDROME 2 https://db.gestaltmatcher.org/patients/image_26225 female RNASEH2B http://identifiers.org/ncbigene/79621 European, European - Eastern Italia 26225 Frontal face "" "" "" "" "" "" NANDO:2200894 MONDO:0012429 OMIM:610181 https://db.gestaltmatcher.org/patients/14398 14398 AICARDI-GOUTIERES SYNDROME 2 https://db.gestaltmatcher.org/patients/image_26226 female RNASEH2B http://identifiers.org/ncbigene/79621 European, European - Eastern Italia 26226 Consent "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/13683 13683 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_24386 male FMR1 http://identifiers.org/ncbigene/2332 "" Bulgaria 24386 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/13683 13683 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_24386 male FMR1 http://identifiers.org/ncbigene/2332 "" Bulgaria 24386 Frontal face "" "" "" "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23731 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23731 MRI "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13279 13279 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23731 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23731 MRI "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" 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 "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" 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 "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" 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 "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" 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 "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" 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 "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" 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 "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" 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 "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" 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 "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13358 13358 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23729 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23729 Frontal face "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13358 13358 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23729 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23729 Frontal face "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13359 13359 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23730 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23730 Frontal face "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13359 13359 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23730 male HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23730 Frontal face "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13377 13377 Stickler syndrome https://db.gestaltmatcher.org/patients/image_23758 female COL2A1 http://identifiers.org/ncbigene/1280 Caucasian, European, European - Northwestern "" 23758 Frontal face "" 10486316 http://rdf.ncbi.nlm.nih.gov/pubmed/10486316 "" "" "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13377 13377 Stickler syndrome https://db.gestaltmatcher.org/patients/image_23759 female COL2A1 http://identifiers.org/ncbigene/1280 Caucasian, European, European - Northwestern "" 23759 Profile "" 10486316 http://rdf.ncbi.nlm.nih.gov/pubmed/10486316 "" "" "" NANDO:2201354 MONDO:0007160 OMIM:108300 https://db.gestaltmatcher.org/patients/13378 13378 STICKLER SYNDROME, TYPE I https://db.gestaltmatcher.org/patients/image_23760 male COL2A1 http://identifiers.org/ncbigene/1280 Caucasian "" 23760 Frontal face "" 32867104 http://rdf.ncbi.nlm.nih.gov/pubmed/32867104 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13408 13408 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23808 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23808 Frontal face "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/13408 13408 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_23808 female HRAS http://identifiers.org/ncbigene/3265 Unknown "" 23808 Frontal face "" 21438134 http://rdf.ncbi.nlm.nih.gov/pubmed/21438134 "" "" "" NANDO:1200330 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23963 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23963 Frontal face "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:2200704 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23963 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23963 Frontal face "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:1200330 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23964 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23964 Limbs "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:2200704 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23964 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23964 Limbs "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:1200330 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23965 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23965 Limbs "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:2200704 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23965 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23965 Limbs "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:1200330 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23966 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23966 Frontal face "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:2200704 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23966 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23966 Frontal face "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:1200330 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23967 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23967 Limbs "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:2200704 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23967 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23967 Limbs "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:1200330 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23968 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23968 Limbs "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:2200704 MONDO:0010518 OMIM:301000 https://db.gestaltmatcher.org/patients/13471 13471 WISKOTT-ALDRICH SYNDROME https://db.gestaltmatcher.org/patients/image_23968 male WAS http://identifiers.org/ncbigene/7454 Unknown "" 23968 Limbs "" 31750279 http://rdf.ncbi.nlm.nih.gov/pubmed/31750279 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13477 13477 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23975 male ERCC8 http://identifiers.org/ncbigene/1161 American - Latin/Hispanic "" 23975 Frontal face "" 34105807 http://rdf.ncbi.nlm.nih.gov/pubmed/34105807 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13478 13478 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23976 female ERCC8 http://identifiers.org/ncbigene/1161 Asian, Asian - East "" 23976 Profile "" 32160415 http://rdf.ncbi.nlm.nih.gov/pubmed/32160415 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13481 13481 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23979 female ERCC8 http://identifiers.org/ncbigene/1161 Caucasian "" 23979 Frontal face "" 32048102 http://rdf.ncbi.nlm.nih.gov/pubmed/32048102 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13481 13481 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23981 female ERCC8 http://identifiers.org/ncbigene/1161 Caucasian "" 23981 MRI "" 32048102 http://rdf.ncbi.nlm.nih.gov/pubmed/32048102 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13481 13481 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23982 female ERCC8 http://identifiers.org/ncbigene/1161 Caucasian "" 23982 Frontal face "" 32048102 http://rdf.ncbi.nlm.nih.gov/pubmed/32048102 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13482 13482 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23980 female ERCC8 http://identifiers.org/ncbigene/1161 Caucasian "" 23980 Frontal face "" 32048102 http://rdf.ncbi.nlm.nih.gov/pubmed/32048102 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13483 13483 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_23983 male ERCC6 http://identifiers.org/ncbigene/2074 Caucasian, European, European - Northwestern "" 23983 Frontal face "" 29944916 http://rdf.ncbi.nlm.nih.gov/pubmed/29944916 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13483 13483 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_23984 male ERCC6 http://identifiers.org/ncbigene/2074 Caucasian, European, European - Northwestern "" 23984 Frontal face "" 29944916 http://rdf.ncbi.nlm.nih.gov/pubmed/29944916 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13483 13483 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_23985 male ERCC6 http://identifiers.org/ncbigene/2074 Caucasian, European, European - Northwestern "" 23985 MRI "" 29944916 http://rdf.ncbi.nlm.nih.gov/pubmed/29944916 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13483 13483 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_23986 male ERCC6 http://identifiers.org/ncbigene/2074 Caucasian, European, European - Northwestern "" 23986 MRI "" 29944916 http://rdf.ncbi.nlm.nih.gov/pubmed/29944916 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13484 13484 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_23987 male ERCC6 http://identifiers.org/ncbigene/2074 Caucasian, European, European - Northwestern "" 23987 Frontal face "" 29944916 http://rdf.ncbi.nlm.nih.gov/pubmed/29944916 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13484 13484 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_23988 male ERCC6 http://identifiers.org/ncbigene/2074 Caucasian, European, European - Northwestern "" 23988 Frontal face "" 29944916 http://rdf.ncbi.nlm.nih.gov/pubmed/29944916 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13488 13488 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_23999 female ERCC6 http://identifiers.org/ncbigene/2074 Unknown "" 23999 Frontal face "" 21376145 http://rdf.ncbi.nlm.nih.gov/pubmed/21376145 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13488 13488 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24000 female ERCC6 http://identifiers.org/ncbigene/2074 Unknown "" 24000 Profile "" 21376145 http://rdf.ncbi.nlm.nih.gov/pubmed/21376145 "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13494 13494 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_24031 unknown NBN http://identifiers.org/ncbigene/4683 Unknown "" 24031 Profile "" 21337117 http://rdf.ncbi.nlm.nih.gov/pubmed/21337117 "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13494 13494 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_24031 unknown NBN http://identifiers.org/ncbigene/4683 Unknown "" 24031 Profile "" 21337117 http://rdf.ncbi.nlm.nih.gov/pubmed/21337117 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13495 13495 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24032 unknown RECQL3 http://identifiers.org/ncbigene/641 Unknown "" 24032 Frontal face "" 21337117 http://rdf.ncbi.nlm.nih.gov/pubmed/21337117 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13495 13495 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24032 unknown RECQL3 http://identifiers.org/ncbigene/641 Unknown "" 24032 Frontal face "" 21337117 http://rdf.ncbi.nlm.nih.gov/pubmed/21337117 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13517 13517 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24075 female ERCC6 http://identifiers.org/ncbigene/2074 Unknown "" 24075 Frontal face "" 18183039 http://rdf.ncbi.nlm.nih.gov/pubmed/18183039 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13517 13517 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24076 female ERCC6 http://identifiers.org/ncbigene/2074 Unknown "" 24076 MRI "" 18183039 http://rdf.ncbi.nlm.nih.gov/pubmed/18183039 "" "" "" NANDO:1201083 MONDO:0009532 OMIM:247200 https://db.gestaltmatcher.org/patients/13663 13663 MILLER-DIEKER LISSENCEPHALY SYNDROME https://db.gestaltmatcher.org/patients/image_24365 unknown PAFAH1B1 http://identifiers.org/ncbigene/5048 Unknown "" 24365 MRI "" 34731701 http://rdf.ncbi.nlm.nih.gov/pubmed/34731701 "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/14018 14018 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_25282 male SCARF2 http://identifiers.org/ncbigene/91179 Unknown "" 25282 Frontal face "" 33783941 http://rdf.ncbi.nlm.nih.gov/pubmed/33783941 "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/14018 14018 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_25283 male SCARF2 http://identifiers.org/ncbigene/91179 Unknown "" 25283 Profile "" 33783941 http://rdf.ncbi.nlm.nih.gov/pubmed/33783941 "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/14018 14018 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_25284 male SCARF2 http://identifiers.org/ncbigene/91179 Unknown "" 25284 Frontal face "" 33783941 http://rdf.ncbi.nlm.nih.gov/pubmed/33783941 "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/14018 14018 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_25285 male SCARF2 http://identifiers.org/ncbigene/91179 Unknown "" 25285 Limbs "" 33783941 http://rdf.ncbi.nlm.nih.gov/pubmed/33783941 "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/14018 14018 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_25286 male SCARF2 http://identifiers.org/ncbigene/91179 Unknown "" 25286 Limbs "" 33783941 http://rdf.ncbi.nlm.nih.gov/pubmed/33783941 "" "" "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14042 14042 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25362 unknown FGFR2 http://identifiers.org/ncbigene/2263 African "" 25362 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14042 14042 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25362 unknown FGFR2 http://identifiers.org/ncbigene/2263 African "" 25362 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14042 14042 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25363 unknown FGFR2 http://identifiers.org/ncbigene/2263 African "" 25363 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14042 14042 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25363 unknown FGFR2 http://identifiers.org/ncbigene/2263 African "" 25363 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14307 14307 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26020 male NLRP3 http://identifiers.org/ncbigene/114548 Unknown "" 26020 Frontal face "" 16532456 http://rdf.ncbi.nlm.nih.gov/pubmed/16532456 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14307 14307 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26020 male NLRP3 http://identifiers.org/ncbigene/114548 Unknown "" 26020 Frontal face "" 16532456 http://rdf.ncbi.nlm.nih.gov/pubmed/16532456 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14307 14307 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26021 male NLRP3 http://identifiers.org/ncbigene/114548 Unknown "" 26021 Funduscopy "" 16532456 http://rdf.ncbi.nlm.nih.gov/pubmed/16532456 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14307 14307 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26021 male NLRP3 http://identifiers.org/ncbigene/114548 Unknown "" 26021 Funduscopy "" 16532456 http://rdf.ncbi.nlm.nih.gov/pubmed/16532456 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14307 14307 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26022 male NLRP3 http://identifiers.org/ncbigene/114548 Unknown "" 26022 Others "" 16532456 http://rdf.ncbi.nlm.nih.gov/pubmed/16532456 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14307 14307 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26022 male NLRP3 http://identifiers.org/ncbigene/114548 Unknown "" 26022 Others "" 16532456 http://rdf.ncbi.nlm.nih.gov/pubmed/16532456 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26023 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26023 Frontal face "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26023 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26023 Frontal face "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26024 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26024 Funduscopy "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26024 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26024 Funduscopy "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26025 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26025 Limbs "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26025 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26025 Limbs "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26026 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26026 Others "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26026 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26026 Others "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26027 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26027 Others "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26027 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26027 Others "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26028 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26028 Others "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14308 14308 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26028 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26028 Others "" 12483741 http://rdf.ncbi.nlm.nih.gov/pubmed/12483741 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14310 14310 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26030 unknown NLRP3 http://identifiers.org/ncbigene/114548 Unknown "" 26030 Frontal face "" 36906447 http://rdf.ncbi.nlm.nih.gov/pubmed/36906447 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14310 14310 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26030 unknown NLRP3 http://identifiers.org/ncbigene/114548 Unknown "" 26030 Frontal face "" 36906447 http://rdf.ncbi.nlm.nih.gov/pubmed/36906447 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14311 14311 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26031 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26031 Frontal face "" 26585548 http://rdf.ncbi.nlm.nih.gov/pubmed/26585548 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14311 14311 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26031 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26031 Frontal face "" 26585548 http://rdf.ncbi.nlm.nih.gov/pubmed/26585548 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14311 14311 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26032 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26032 Frontal face "" 26585548 http://rdf.ncbi.nlm.nih.gov/pubmed/26585548 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14311 14311 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26032 male NLRP3 http://identifiers.org/ncbigene/114548 Caucasian "" 26032 Frontal face "" 26585548 http://rdf.ncbi.nlm.nih.gov/pubmed/26585548 "" "" "" NANDO:1200324 MONDO:0011338 OMIM:603554 https://db.gestaltmatcher.org/patients/14573 14573 OMENN SYNDROME https://db.gestaltmatcher.org/patients/image_26536 female LIG1 http://identifiers.org/ncbigene/3978 Unknown "" 26536 Frontal face "" 36341401 http://rdf.ncbi.nlm.nih.gov/pubmed/36341401 "" "" "" NANDO:2200697 MONDO:0011338 OMIM:603554 https://db.gestaltmatcher.org/patients/14573 14573 OMENN SYNDROME https://db.gestaltmatcher.org/patients/image_26536 female LIG1 http://identifiers.org/ncbigene/3978 Unknown "" 26536 Frontal face "" 36341401 http://rdf.ncbi.nlm.nih.gov/pubmed/36341401 "" "" "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_23797 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 23797 Profile "" "" "" "" "" "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_23799 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 23799 Frontal face "" "" "" "" "" "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_23796 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 23796 Frontal face "" "" "" "" "" "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_26427 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 26427 Consent "" "" "" "" "" "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_23798 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 23798 Frontal face "" "" "" "" "" "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_23796 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 23796 Frontal face "" "" "" "" "" "" NANDO:1200108 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_23799 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 23799 Frontal face "" "" "" "" "" "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_23797 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 23797 Profile "" "" "" "" "" "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_26427 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 26427 Consent "" "" "" "" "" "" NANDO:2200551 MONDO:0009661 OMIM:253200 https://db.gestaltmatcher.org/patients/13403 13403 MUCOPOLYSACCHARIDOSIS, TYPE VI https://db.gestaltmatcher.org/patients/image_23798 female ARSB http://identifiers.org/ncbigene/411 Caucasian "" 23798 Frontal face "" "" "" "" "" "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/13817 13817 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_24771 unknown KMT2A http://identifiers.org/ncbigene/4297 European - Eastern "" 24771 Profile "" "" "" "" "" "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/13817 13817 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_24770 unknown KMT2A http://identifiers.org/ncbigene/4297 European - Eastern "" 24770 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_28983 female NBN http://identifiers.org/ncbigene/4683 European "" 28983 Frontal face "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_24991 female NBN http://identifiers.org/ncbigene/4683 European "" 24991 Profile "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_28981 female NBN http://identifiers.org/ncbigene/4683 European "" 28981 Others "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_24992 female NBN http://identifiers.org/ncbigene/4683 European "" 24992 Others "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_28982 female NBN http://identifiers.org/ncbigene/4683 European "" 28982 Others "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_28980 female NBN http://identifiers.org/ncbigene/4683 European "" 28980 Profile "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_24990 female NBN http://identifiers.org/ncbigene/4683 European "" 24990 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_28980 female NBN http://identifiers.org/ncbigene/4683 European "" 28980 Profile "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_28983 female NBN http://identifiers.org/ncbigene/4683 European "" 28983 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_24991 female NBN http://identifiers.org/ncbigene/4683 European "" 24991 Profile "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_28981 female NBN http://identifiers.org/ncbigene/4683 European "" 28981 Others "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_24992 female NBN http://identifiers.org/ncbigene/4683 European "" 24992 Others "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_28982 female NBN http://identifiers.org/ncbigene/4683 European "" 28982 Others "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/13932 13932 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_24990 female NBN http://identifiers.org/ncbigene/4683 European "" 24990 Frontal face "" "" "" "" "" "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/13938 13938 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_25034 male KMT2A http://identifiers.org/ncbigene/4297 Asian - South/Indian "" 25034 Frontal face "" "" "" "" "" "" NANDO:2200894 MONDO:0012429 OMIM:610181 https://db.gestaltmatcher.org/patients/14397 14397 AICARDI-GOUTIERES SYNDROME 2 https://db.gestaltmatcher.org/patients/image_26224 male RNASEH2B http://identifiers.org/ncbigene/79621 European, European - Eastern "" 26224 Consent "" "" "" "" "" "" NANDO:2200894 MONDO:0012429 OMIM:610181 https://db.gestaltmatcher.org/patients/14397 14397 AICARDI-GOUTIERES SYNDROME 2 https://db.gestaltmatcher.org/patients/image_26222 male RNASEH2B http://identifiers.org/ncbigene/79621 European, European - Eastern "" 26222 Frontal face "" "" "" "" "" "" NANDO:2200894 MONDO:0012429 OMIM:610181 https://db.gestaltmatcher.org/patients/14397 14397 AICARDI-GOUTIERES SYNDROME 2 https://db.gestaltmatcher.org/patients/image_26223 male RNASEH2B http://identifiers.org/ncbigene/79621 European, European - Eastern "" 26223 Frontal face "" "" "" "" "" "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14037 14037 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25352 male FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25352 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14037 14037 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25353 male FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25353 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14037 14037 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25352 male FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25352 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14037 14037 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25353 male FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25353 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14043 14043 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25364 female FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25364 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14043 14043 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25365 female FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25365 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14043 14043 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25364 female FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25364 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14043 14043 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25365 female FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25365 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14044 14044 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25366 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25366 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200845 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14044 14044 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25367 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25367 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14044 14044 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25366 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25366 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200666 MONDO:0007405 OMIM:123500 https://db.gestaltmatcher.org/patients/14044 14044 CROUZON SYNDROME https://db.gestaltmatcher.org/patients/image_25367 unknown FGFR2 http://identifiers.org/ncbigene/2263 "" "" 25367 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/14046 14046 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_25370 unknown FGFR1 http://identifiers.org/ncbigene/2260 "" "" 25370 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/14046 14046 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_25371 unknown FGFR1 http://identifiers.org/ncbigene/2260 "" "" 25371 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/14046 14046 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_25371 unknown FGFR1 http://identifiers.org/ncbigene/2260 "" "" 25371 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/14046 14046 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_25370 unknown FGFR1 http://identifiers.org/ncbigene/2260 "" "" 25370 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13516 13516 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24073 female "" "" African - North consanguineous parents 24073 Profile "" 20209858 http://rdf.ncbi.nlm.nih.gov/pubmed/20209858 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13516 13516 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24074 female "" "" African - North consanguineous parents 24074 MRI "" 20209858 http://rdf.ncbi.nlm.nih.gov/pubmed/20209858 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13516 13516 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24073 female "" "" African - North consanguineous parents 24073 Profile "" 20209858 http://rdf.ncbi.nlm.nih.gov/pubmed/20209858 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13516 13516 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24074 female "" "" African - North consanguineous parents 24074 MRI "" 20209858 http://rdf.ncbi.nlm.nih.gov/pubmed/20209858 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13826 13826 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24800 female "" "" European - Southern Jewish 24800 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13826 13826 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24800 female "" "" European - Southern Jewish 24800 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13827 13827 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24802 male "" "" European - Southern Jewish 24802 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13827 13827 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24803 male "" "" European - Southern Jewish 24803 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13827 13827 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24801 male "" "" European - Southern Jewish 24801 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13827 13827 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24801 male "" "" European - Southern Jewish 24801 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13827 13827 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24803 male "" "" European - Southern Jewish 24803 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13827 13827 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24802 male "" "" European - Southern Jewish 24802 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13829 13829 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24810 female "" "" European Jewish 24810 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13829 13829 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24811 female "" "" European Jewish 24811 Limbs "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13829 13829 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24809 female "" "" European Jewish 24809 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13829 13829 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24809 female "" "" European Jewish 24809 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13829 13829 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24811 female "" "" European Jewish 24811 Limbs "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13829 13829 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24810 female "" "" European Jewish 24810 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13830 13830 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24812 female "" "" European - Eastern Jewish 24812 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13830 13830 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24812 female "" "" European - Eastern Jewish 24812 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13905 13905 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24947 female "" "" European Jewish 24947 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13905 13905 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24948 female "" "" European Jewish 24948 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13905 13905 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24948 female "" "" European Jewish 24948 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13905 13905 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24947 female "" "" European Jewish 24947 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13906 13906 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24950 female "" "" European Jewish 24950 Profile "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13906 13906 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24949 female "" "" European Jewish 24949 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13906 13906 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24949 female "" "" European Jewish 24949 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13906 13906 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24950 female "" "" European Jewish 24950 Profile "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13912 13912 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24961 male "" "" Asian, European - Eastern Jewish 24961 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13912 13912 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24962 male "" "" Asian, European - Eastern Jewish 24962 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13912 13912 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24962 male "" "" Asian, European - Eastern Jewish 24962 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13912 13912 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24961 male "" "" Asian, European - Eastern Jewish 24961 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13353 13353 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_23724 unknown "" "" Unknown "" 23724 Others "" 27689172 http://rdf.ncbi.nlm.nih.gov/pubmed/27689172 "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13356 13356 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_23727 unknown "" "" Unknown "" 23727 Others "" 35316896 http://rdf.ncbi.nlm.nih.gov/pubmed/35316896 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13487 13487 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_23998 male "" "" Caucasian "" 23998 Frontal face "" 27124796 http://rdf.ncbi.nlm.nih.gov/pubmed/27124796 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13518 13518 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24077 female "" "" Caucasian, European "" 24077 Frontal face "" 17935247 http://rdf.ncbi.nlm.nih.gov/pubmed/17935247 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13518 13518 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24077 female "" "" Caucasian, European "" 24077 Frontal face "" 17935247 http://rdf.ncbi.nlm.nih.gov/pubmed/17935247 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13519 13519 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24078 male "" "" Caucasian "" 24078 Frontal face "" 17092472 http://rdf.ncbi.nlm.nih.gov/pubmed/17092472 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13519 13519 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24079 male "" "" Caucasian "" 24079 Frontal face "" 17092472 http://rdf.ncbi.nlm.nih.gov/pubmed/17092472 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13519 13519 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24080 male "" "" Caucasian "" 24080 Frontal face "" 17092472 http://rdf.ncbi.nlm.nih.gov/pubmed/17092472 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13519 13519 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24081 male "" "" Caucasian "" 24081 Frontal face "" 17092472 http://rdf.ncbi.nlm.nih.gov/pubmed/17092472 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13520 13520 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24082 female "" "" Caucasian "" 24082 Frontal face "" 15887300 http://rdf.ncbi.nlm.nih.gov/pubmed/15887300 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13521 13521 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24083 female "" "" Caucasian "" 24083 Frontal face "" 14651579 http://rdf.ncbi.nlm.nih.gov/pubmed/14651579 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13521 13521 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24084 female "" "" Caucasian "" 24084 Frontal face "" 14651579 http://rdf.ncbi.nlm.nih.gov/pubmed/14651579 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13521 13521 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24083 female "" "" Caucasian "" 24083 Frontal face "" 14651579 http://rdf.ncbi.nlm.nih.gov/pubmed/14651579 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13521 13521 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24084 female "" "" Caucasian "" 24084 Frontal face "" 14651579 http://rdf.ncbi.nlm.nih.gov/pubmed/14651579 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13522 13522 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24085 female "" "" Unknown "" 24085 Frontal face "" 11732042 http://rdf.ncbi.nlm.nih.gov/pubmed/11732042 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13522 13522 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24086 female "" "" Unknown "" 24086 Profile "" 11732042 http://rdf.ncbi.nlm.nih.gov/pubmed/11732042 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13522 13522 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24085 female "" "" Unknown "" 24085 Frontal face "" 11732042 http://rdf.ncbi.nlm.nih.gov/pubmed/11732042 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13522 13522 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24086 female "" "" Unknown "" 24086 Profile "" 11732042 http://rdf.ncbi.nlm.nih.gov/pubmed/11732042 "" "" "" NANDO:1201164 MONDO:0019570 OMIM:133540 https://db.gestaltmatcher.org/patients/13523 13523 COCKAYNE SYNDROME B https://db.gestaltmatcher.org/patients/image_24087 male "" "" Caucasian, European, European - Northwestern "" 24087 Frontal face "" 8897565 http://rdf.ncbi.nlm.nih.gov/pubmed/8897565 "" "" "" NANDO:1201163 MONDO:0019569 OMIM:216400 https://db.gestaltmatcher.org/patients/13523 13523 COCKAYNE SYNDROME A https://db.gestaltmatcher.org/patients/image_24087 male "" "" Caucasian, European, European - Northwestern "" 24087 Frontal face "" 8897565 http://rdf.ncbi.nlm.nih.gov/pubmed/8897565 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13828 13828 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24805 male "" "" European - Northwestern "" 24805 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13828 13828 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24805 male "" "" European - Northwestern "" 24805 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13828 13828 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24806 male "" "" European - Northwestern "" 24806 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13828 13828 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24806 male "" "" European - Northwestern "" 24806 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13828 13828 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24807 male "" "" European - Northwestern "" 24807 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13828 13828 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24807 male "" "" European - Northwestern "" 24807 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13828 13828 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24808 male "" "" European - Northwestern "" 24808 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13828 13828 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24808 male "" "" European - Northwestern "" 24808 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13896 13896 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24938 male "" "" European - Northwestern "" 24938 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13896 13896 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24938 male "" "" European - Northwestern "" 24938 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13907 13907 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24951 male "" "" European - Northwestern "" 24951 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13907 13907 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24951 male "" "" European - Northwestern "" 24951 Frontal face "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13907 13907 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24952 male "" "" European - Northwestern "" 24952 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13907 13907 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24952 male "" "" European - Northwestern "" 24952 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13907 13907 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24953 male "" "" European - Northwestern "" 24953 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13907 13907 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_24953 male "" "" European - Northwestern "" 24953 Others "" 5770175 http://rdf.ncbi.nlm.nih.gov/pubmed/5770175 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13946 13946 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25073 male "" "" Unknown "" 25073 Frontal face "" 21827897 http://rdf.ncbi.nlm.nih.gov/pubmed/21827897 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13946 13946 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25073 male "" "" Unknown "" 25073 Frontal face "" 21827897 http://rdf.ncbi.nlm.nih.gov/pubmed/21827897 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13967 13967 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25108 female "" "" Unknown "" 25108 Frontal face "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13967 13967 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25108 female "" "" Unknown "" 25108 Frontal face "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13967 13967 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25109 female "" "" Unknown "" 25109 Others "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13967 13967 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25109 female "" "" Unknown "" 25109 Others "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13972 13972 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25154 female "" "" Unknown "" 25154 Frontal face "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13972 13972 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25154 female "" "" Unknown "" 25154 Frontal face "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13972 13972 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25155 female "" "" Unknown "" 25155 Others "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13972 13972 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25155 female "" "" Unknown "" 25155 Others "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13972 13972 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25156 female "" "" Unknown "" 25156 Others "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13972 13972 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25156 female "" "" Unknown "" 25156 Others "" 14229760 http://rdf.ncbi.nlm.nih.gov/pubmed/14229760 "" "" "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/14038 14038 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_25354 male "" "" African "" 25354 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/14038 14038 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_25354 male "" "" African "" 25354 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200667 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/14038 14038 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_25355 male "" "" African "" 25355 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200844 MONDO:0007041 OMIM:101200 https://db.gestaltmatcher.org/patients/14038 14038 APERT SYNDROME https://db.gestaltmatcher.org/patients/image_25355 male "" "" African "" 25355 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14312 14312 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26033 female "" "" Unknown "" 26033 Frontal face "" 3709576 http://rdf.ncbi.nlm.nih.gov/pubmed/3709576 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14312 14312 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26033 female "" "" Unknown "" 26033 Frontal face "" 3709576 http://rdf.ncbi.nlm.nih.gov/pubmed/3709576 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14312 14312 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26034 female "" "" Unknown "" 26034 Others "" 3709576 http://rdf.ncbi.nlm.nih.gov/pubmed/3709576 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14312 14312 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26034 female "" "" Unknown "" 26034 Others "" 3709576 http://rdf.ncbi.nlm.nih.gov/pubmed/3709576 "" "" "" NANDO:1200468 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14312 14312 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26035 female "" "" Unknown "" 26035 Others "" 3709576 http://rdf.ncbi.nlm.nih.gov/pubmed/3709576 "" "" "" NANDO:2201066 MONDO:0011776 OMIM:607115 https://db.gestaltmatcher.org/patients/14312 14312 CINCA SYNDROME https://db.gestaltmatcher.org/patients/image_26035 female "" "" Unknown "" 26035 Others "" 3709576 http://rdf.ncbi.nlm.nih.gov/pubmed/3709576 "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13352 13352 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_23723 unknown "" "" Unknown "" 23723 Others "" "" "" "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13355 13355 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_23726 unknown "" "" Unknown "" 23726 Others "" "" "" "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13528 13528 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_24093 unknown "" "" Unknown "" 24093 Others "" "" "" "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13528 13528 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_24092 unknown "" "" Unknown "" 24092 Others "" "" "" "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13944 13944 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_25065 male "" "" Caucasian "" 25065 Others "" "" "" "" "" "" NANDO:1200333 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13944 13944 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_25064 male "" "" Caucasian "" 25064 Frontal face "" "" "" "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13944 13944 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_25064 male "" "" Caucasian "" 25064 Frontal face "" "" "" "" "" "" NANDO:2200707 MONDO:0008876 OMIM:210900 https://db.gestaltmatcher.org/patients/13944 13944 BLOOM SYNDROME https://db.gestaltmatcher.org/patients/image_25065 male "" "" Caucasian "" 25065 Others "" "" "" "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/13354 13354 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_23725 unknown "" "" "" "" 23725 Others "" 27689172 http://rdf.ncbi.nlm.nih.gov/pubmed/27689172 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13945 13945 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25072 male "" "" "" "" 25072 Others "" 21827897 http://rdf.ncbi.nlm.nih.gov/pubmed/21827897 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13945 13945 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25071 male "" "" "" "" 25071 Frontal face "" 21827897 http://rdf.ncbi.nlm.nih.gov/pubmed/21827897 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13945 13945 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25072 male "" "" "" "" 25072 Others "" 21827897 http://rdf.ncbi.nlm.nih.gov/pubmed/21827897 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/13945 13945 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_25071 male "" "" "" "" 25071 Frontal face "" 21827897 http://rdf.ncbi.nlm.nih.gov/pubmed/21827897 "" "" "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/14040 14040 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_25359 female "" "" "" "" 25359 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/14040 14040 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_25358 female "" "" "" "" 25358 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200976 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/14040 14040 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_25359 female "" "" "" "" 25359 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:1200668 MONDO:0007043 OMIM:101600 https://db.gestaltmatcher.org/patients/14040 14040 PFEIFFER SYNDROME https://db.gestaltmatcher.org/patients/image_25358 female "" "" "" "" 25358 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/14041 14041 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_25360 female "" "" "" "" 25360 Frontal face "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200848 MONDO:0007042 OMIM:101400 https://db.gestaltmatcher.org/patients/14041 14041 SAETHRE-CHOTZEN SYNDROME https://db.gestaltmatcher.org/patients/image_25361 female "" "" "" "" 25361 Profile "" 39187417 http://rdf.ncbi.nlm.nih.gov/pubmed/39187417 "" "" "" NANDO:2200818 MONDO:0010011 OMIM:269160 https://db.gestaltmatcher.org/patients/14222 14222 SCHIZENCEPHALY https://db.gestaltmatcher.org/patients/image_25795 unknown "" "" "" "" 25795 MRI "" 18472484 http://rdf.ncbi.nlm.nih.gov/pubmed/18472484 "" "" "" NANDO:1201073 MONDO:0010011 OMIM:269160 https://db.gestaltmatcher.org/patients/14222 14222 SCHIZENCEPHALY https://db.gestaltmatcher.org/patients/image_25795 unknown "" "" "" "" 25795 MRI "" 18472484 http://rdf.ncbi.nlm.nih.gov/pubmed/18472484 "" "" "" NANDO:2200818 MONDO:0010011 OMIM:269160 https://db.gestaltmatcher.org/patients/14223 14223 SCHIZENCEPHALY https://db.gestaltmatcher.org/patients/image_25796 unknown "" "" "" "" 25796 MRI "" 18472484 http://rdf.ncbi.nlm.nih.gov/pubmed/18472484 "" "" "" NANDO:1201073 MONDO:0010011 OMIM:269160 https://db.gestaltmatcher.org/patients/14223 14223 SCHIZENCEPHALY https://db.gestaltmatcher.org/patients/image_25796 unknown "" "" "" "" 25796 MRI "" 18472484 http://rdf.ncbi.nlm.nih.gov/pubmed/18472484 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14639 14639 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26739 male MAGEL2 http://identifiers.org/ncbigene/54551 Other Moroccan 26739 Profile "" 29660409 http://rdf.ncbi.nlm.nih.gov/pubmed/29660409 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14639 14639 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26741 male MAGEL2 http://identifiers.org/ncbigene/54551 Other Moroccan 26741 Others "" 29660409 http://rdf.ncbi.nlm.nih.gov/pubmed/29660409 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14639 14639 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26738 male MAGEL2 http://identifiers.org/ncbigene/54551 Other Moroccan 26738 Frontal face "" 29660409 http://rdf.ncbi.nlm.nih.gov/pubmed/29660409 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14639 14639 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26740 male MAGEL2 http://identifiers.org/ncbigene/54551 Other Moroccan 26740 Others "" 29660409 http://rdf.ncbi.nlm.nih.gov/pubmed/29660409 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14641 14641 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26743 female "" "" Other Mother: French-Canadian/ Irish; Father: Welsh/English 26743 Others "" 2240046 http://rdf.ncbi.nlm.nih.gov/pubmed/2240046 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14641 14641 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26742 female "" "" Other Mother: French-Canadian/ Irish; Father: Welsh/English 26742 Frontal face "" 2240046 http://rdf.ncbi.nlm.nih.gov/pubmed/2240046 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14642 14642 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26745 male "" "" Other Mother: French-Canadian/ Irish; Father: Welsh/English 26745 Others "" 2240046 http://rdf.ncbi.nlm.nih.gov/pubmed/2240046 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14642 14642 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26744 male "" "" Other Mother: French-Canadian/ Irish; Father: Welsh/English 26744 Frontal face "" 2240046 http://rdf.ncbi.nlm.nih.gov/pubmed/2240046 "" "" "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/14649 14649 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_26750 male "" "" European German 26750 Frontal face "" "" "" "" "" "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/14649 14649 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_26750 male "" "" European German 26750 Frontal face "" "" "" "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14659 14659 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26785 female MAGEL2 http://identifiers.org/ncbigene/54551 Other Spanish 26785 Frontal face "" 28281571 http://rdf.ncbi.nlm.nih.gov/pubmed/28281571 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14659 14659 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26786 female MAGEL2 http://identifiers.org/ncbigene/54551 Other Spanish 26786 Frontal face "" 28281571 http://rdf.ncbi.nlm.nih.gov/pubmed/28281571 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14659 14659 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26787 female MAGEL2 http://identifiers.org/ncbigene/54551 Other Spanish 26787 Frontal face "" 28281571 http://rdf.ncbi.nlm.nih.gov/pubmed/28281571 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14659 14659 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26788 female MAGEL2 http://identifiers.org/ncbigene/54551 Other Spanish 26788 Limbs "" 28281571 http://rdf.ncbi.nlm.nih.gov/pubmed/28281571 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14659 14659 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26789 female MAGEL2 http://identifiers.org/ncbigene/54551 Other Spanish 26789 Limbs "" 28281571 http://rdf.ncbi.nlm.nih.gov/pubmed/28281571 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14659 14659 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26790 female MAGEL2 http://identifiers.org/ncbigene/54551 Other Spanish 26790 Limbs "" 28281571 http://rdf.ncbi.nlm.nih.gov/pubmed/28281571 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14659 14659 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26791 female MAGEL2 http://identifiers.org/ncbigene/54551 Other Spanish 26791 Limbs "" 28281571 http://rdf.ncbi.nlm.nih.gov/pubmed/28281571 "" "" "" NANDO:2201525 MONDO:0014243 OMIM:615547 https://db.gestaltmatcher.org/patients/14659 14659 SCHAAF-YANG SYNDROME https://db.gestaltmatcher.org/patients/image_26792 female MAGEL2 http://identifiers.org/ncbigene/54551 Other Spanish 26792 Limbs "" 28281571 http://rdf.ncbi.nlm.nih.gov/pubmed/28281571 "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14740 14740 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_27014 male NBN http://identifiers.org/ncbigene/4683 Asian, European - Eastern East Slavic 27014 Frontal face "" 33488600 http://rdf.ncbi.nlm.nih.gov/pubmed/33488600 "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14740 14740 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_27014 male NBN http://identifiers.org/ncbigene/4683 Asian, European - Eastern East Slavic 27014 Frontal face "" 33488600 http://rdf.ncbi.nlm.nih.gov/pubmed/33488600 "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14741 14741 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_27015 male NBN http://identifiers.org/ncbigene/4683 Asian, European - Eastern East Slavic 27015 Frontal face "" 33488600 http://rdf.ncbi.nlm.nih.gov/pubmed/33488600 "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14741 14741 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_27015 male NBN http://identifiers.org/ncbigene/4683 Asian, European - Eastern East Slavic 27015 Frontal face "" 33488600 http://rdf.ncbi.nlm.nih.gov/pubmed/33488600 "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14742 14742 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_27016 male NBN http://identifiers.org/ncbigene/4683 Asian, European - Eastern East Slavic 27016 Frontal face "" 33488600 http://rdf.ncbi.nlm.nih.gov/pubmed/33488600 "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14742 14742 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_27016 male NBN http://identifiers.org/ncbigene/4683 Asian, European - Eastern East Slavic 27016 Frontal face "" 33488600 http://rdf.ncbi.nlm.nih.gov/pubmed/33488600 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14800 14800 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27196 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27196 Frontal face "" 33614370 http://rdf.ncbi.nlm.nih.gov/pubmed/33614370 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14800 14800 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27196 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27196 Frontal face "" 33614370 http://rdf.ncbi.nlm.nih.gov/pubmed/33614370 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14801 14801 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27197 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27197 Frontal face "" 33614370 http://rdf.ncbi.nlm.nih.gov/pubmed/33614370 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14801 14801 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27197 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27197 Frontal face "" 33614370 http://rdf.ncbi.nlm.nih.gov/pubmed/33614370 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15222 15222 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28203 female VPS13B http://identifiers.org/ncbigene/157680 European Italian 28203 Frontal face "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15223 15223 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28204 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 28204 Frontal face "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15223 15223 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28205 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 28205 Limbs "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15224 15224 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28206 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 28206 Frontal face "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15225 15225 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28207 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 28207 Others "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15225 15225 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28208 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 28208 Frontal face "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15226 15226 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28209 female VPS13B http://identifiers.org/ncbigene/157680 European Italian 28209 Frontal face "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15226 15226 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28210 female VPS13B http://identifiers.org/ncbigene/157680 European Italian 28210 Limbs "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15227 15227 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28211 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 28211 Frontal face "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15227 15227 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28212 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 28212 Others "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15227 15227 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28213 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 28213 Limbs "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15228 15228 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28214 female VPS13B http://identifiers.org/ncbigene/157680 European Italian 28214 Frontal face "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15229 15229 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28215 female VPS13B http://identifiers.org/ncbigene/157680 European Italian 28215 Frontal face "" 17990063 http://rdf.ncbi.nlm.nih.gov/pubmed/17990063 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15230 15230 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28216 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian UK 28216 Frontal face "" 12676892 http://rdf.ncbi.nlm.nih.gov/pubmed/12676892 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15231 15231 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28217 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian UK 28217 Frontal face "" 12676892 http://rdf.ncbi.nlm.nih.gov/pubmed/12676892 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15232 15232 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28218 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian UK 28218 Frontal face "" 12676892 http://rdf.ncbi.nlm.nih.gov/pubmed/12676892 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15233 15233 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28219 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian UK 28219 Frontal face "" 12676892 http://rdf.ncbi.nlm.nih.gov/pubmed/12676892 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15234 15234 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28220 unknown VPS13B http://identifiers.org/ncbigene/157680 Caucasian UK 28220 Others "" 12676892 http://rdf.ncbi.nlm.nih.gov/pubmed/12676892 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15235 15235 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28221 unknown VPS13B http://identifiers.org/ncbigene/157680 Caucasian UK 28221 Frontal face "" 12676892 http://rdf.ncbi.nlm.nih.gov/pubmed/12676892 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15236 15236 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28222 unknown VPS13B http://identifiers.org/ncbigene/157680 Caucasian UK 28222 Frontal face "" 12676892 http://rdf.ncbi.nlm.nih.gov/pubmed/12676892 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15237 15237 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28223 unknown VPS13B http://identifiers.org/ncbigene/157680 Caucasian UK 28223 Frontal face "" 12676892 http://rdf.ncbi.nlm.nih.gov/pubmed/12676892 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15238 15238 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28224 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian UK 28224 Frontal face "" 12676892 http://rdf.ncbi.nlm.nih.gov/pubmed/12676892 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15255 15255 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28272 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 28272 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15255 15255 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28273 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 28273 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15255 15255 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28274 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 28274 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15256 15256 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28275 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 28275 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15256 15256 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28276 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 28276 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15258 15258 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28278 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 28278 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15258 15258 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28279 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 28279 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15258 15258 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28280 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 28280 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15271 15271 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28308 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28308 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15271 15271 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28309 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28309 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15272 15272 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28310 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28310 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15272 15272 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28311 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28311 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15272 15272 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28312 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28312 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15273 15273 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28313 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28313 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15273 15273 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28314 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28314 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15274 15274 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28315 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28315 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15274 15274 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28316 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28316 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15275 15275 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28322 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28322 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15275 15275 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28323 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28323 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15285 15285 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28349 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28349 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15286 15286 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28350 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28350 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15286 15286 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28351 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28351 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15286 15286 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28352 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28352 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15287 15287 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28353 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28353 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15288 15288 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28354 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkey 28354 Frontal face "" 36067876 http://rdf.ncbi.nlm.nih.gov/pubmed/36067876 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15314 15314 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28388 female VPS13B http://identifiers.org/ncbigene/157680 African - North Tunisian 28388 Frontal face "" 29149870 http://rdf.ncbi.nlm.nih.gov/pubmed/29149870 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15314 15314 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28389 female VPS13B http://identifiers.org/ncbigene/157680 African - North Tunisian 28389 MRI "" 29149870 http://rdf.ncbi.nlm.nih.gov/pubmed/29149870 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15314 15314 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28390 female VPS13B http://identifiers.org/ncbigene/157680 African - North Tunisian 28390 MRI "" 29149870 http://rdf.ncbi.nlm.nih.gov/pubmed/29149870 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15314 15314 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28391 female VPS13B http://identifiers.org/ncbigene/157680 African - North Tunisian 28391 MRI "" 29149870 http://rdf.ncbi.nlm.nih.gov/pubmed/29149870 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15315 15315 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28394 male VPS13B http://identifiers.org/ncbigene/157680 African - North Tunisia 28394 Frontal face "" 29149870 http://rdf.ncbi.nlm.nih.gov/pubmed/29149870 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15317 15317 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28395 male VPS13B http://identifiers.org/ncbigene/157680 European Finland 28395 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15318 15318 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28396 male VPS13B http://identifiers.org/ncbigene/157680 European Finland 28396 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15319 15319 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28397 male VPS13B http://identifiers.org/ncbigene/157680 European Finland 28397 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15320 15320 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28398 female VPS13B http://identifiers.org/ncbigene/157680 European Finland 28398 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15321 15321 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28399 male VPS13B http://identifiers.org/ncbigene/157680 European Finland 28399 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15322 15322 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28401 female VPS13B http://identifiers.org/ncbigene/157680 European Finland 28401 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15323 15323 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28402 female VPS13B http://identifiers.org/ncbigene/157680 European Finland 28402 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15324 15324 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28403 male VPS13B http://identifiers.org/ncbigene/157680 European Finland 28403 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15325 15325 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28404 female VPS13B http://identifiers.org/ncbigene/157680 European Finland 28404 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15326 15326 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28405 male VPS13B http://identifiers.org/ncbigene/157680 European Finland 28405 Frontal face "" 11477603 http://rdf.ncbi.nlm.nih.gov/pubmed/11477603 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15328 15328 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28408 female VPS13B http://identifiers.org/ncbigene/157680 Asian - East Chinese 28408 Frontal face "" 33959574 http://rdf.ncbi.nlm.nih.gov/pubmed/33959574 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15328 15328 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28409 female VPS13B http://identifiers.org/ncbigene/157680 Asian - East Chinese 28409 Limbs "" 33959574 http://rdf.ncbi.nlm.nih.gov/pubmed/33959574 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15328 15328 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28410 female VPS13B http://identifiers.org/ncbigene/157680 Asian - East Chinese 28410 Limbs "" 33959574 http://rdf.ncbi.nlm.nih.gov/pubmed/33959574 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15333 15333 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28421 male VPS13B http://identifiers.org/ncbigene/157680 European Greek 28421 Frontal face "" 21344628 http://rdf.ncbi.nlm.nih.gov/pubmed/21344628 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15333 15333 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28422 male VPS13B http://identifiers.org/ncbigene/157680 European Greek 28422 Profile "" 21344628 http://rdf.ncbi.nlm.nih.gov/pubmed/21344628 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15335 15335 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28427 male VPS13B http://identifiers.org/ncbigene/157680 European Greek 28427 Frontal face "" 21344628 http://rdf.ncbi.nlm.nih.gov/pubmed/21344628 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15335 15335 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28428 male VPS13B http://identifiers.org/ncbigene/157680 European Greek 28428 Profile "" 21344628 http://rdf.ncbi.nlm.nih.gov/pubmed/21344628 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15336 15336 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28432 female VPS13B http://identifiers.org/ncbigene/157680 European Greek 28432 Frontal face "" 21344628 http://rdf.ncbi.nlm.nih.gov/pubmed/21344628 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15337 15337 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28433 male VPS13B http://identifiers.org/ncbigene/157680 European Greek 28433 Profile "" 21344628 http://rdf.ncbi.nlm.nih.gov/pubmed/21344628 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15338 15338 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28434 male VPS13B http://identifiers.org/ncbigene/157680 European Greek Island 28434 Frontal face "" 18655112 http://rdf.ncbi.nlm.nih.gov/pubmed/18655112 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15340 15340 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28436 male VPS13B http://identifiers.org/ncbigene/157680 European Greek Island 28436 Frontal face "" 18655112 http://rdf.ncbi.nlm.nih.gov/pubmed/18655112 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15341 15341 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28437 male VPS13B http://identifiers.org/ncbigene/157680 European Greek Island 28437 Frontal face "" 18655112 http://rdf.ncbi.nlm.nih.gov/pubmed/18655112 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15342 15342 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28438 male VPS13B http://identifiers.org/ncbigene/157680 European Greek Island 28438 Frontal face "" 18655112 http://rdf.ncbi.nlm.nih.gov/pubmed/18655112 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15343 15343 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28439 male VPS13B http://identifiers.org/ncbigene/157680 European Greek Island 28439 Frontal face "" 18655112 http://rdf.ncbi.nlm.nih.gov/pubmed/18655112 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15395 15395 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28560 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 28560 Frontal face "" 25060287 http://rdf.ncbi.nlm.nih.gov/pubmed/25060287 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15395 15395 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28561 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 28561 Frontal face "" 25060287 http://rdf.ncbi.nlm.nih.gov/pubmed/25060287 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15396 15396 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28562 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 28562 Frontal face "" 25060287 http://rdf.ncbi.nlm.nih.gov/pubmed/25060287 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15396 15396 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28563 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 28563 Frontal face "" 25060287 http://rdf.ncbi.nlm.nih.gov/pubmed/25060287 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15401 15401 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28574 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Palestinian 28574 Frontal face "" 17383910 http://rdf.ncbi.nlm.nih.gov/pubmed/17383910 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15401 15401 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28575 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Palestinian 28575 Others "" 17383910 http://rdf.ncbi.nlm.nih.gov/pubmed/17383910 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15402 15402 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28576 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Palestinian 28576 Frontal face "" 17383910 http://rdf.ncbi.nlm.nih.gov/pubmed/17383910 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15403 15403 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28577 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Syrian 28577 Frontal face "" 17383910 http://rdf.ncbi.nlm.nih.gov/pubmed/17383910 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15404 15404 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28578 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Syrian 28578 Frontal face "" 17383910 http://rdf.ncbi.nlm.nih.gov/pubmed/17383910 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15405 15405 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28579 female VPS13B http://identifiers.org/ncbigene/157680 Asian, Asian - West/Middle Eastern Iranian 28579 Frontal face "" 32605629 http://rdf.ncbi.nlm.nih.gov/pubmed/32605629 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28590 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28590 Frontal face "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28591 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28591 Others "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28592 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28592 Profile "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28593 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28593 Funduscopy "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28594 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28594 Funduscopy "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28595 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28595 Optical coherence tomography "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28596 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28596 Optical coherence tomography "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28597 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28597 Optical coherence tomography "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28598 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28598 Optical coherence tomography "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28599 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28599 Others "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28600 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28600 Others "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28601 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28601 Others "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28602 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28602 Others "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28603 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28603 Others "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15409 15409 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28604 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Southern Portuguese 28604 Medical information "" 37901634 http://rdf.ncbi.nlm.nih.gov/pubmed/37901634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15414 15414 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28622 male VPS13B http://identifiers.org/ncbigene/157680 African - North Algerian 28622 Frontal face "" 34644002 http://rdf.ncbi.nlm.nih.gov/pubmed/34644002 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15414 15414 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28624 male VPS13B http://identifiers.org/ncbigene/157680 African - North Algerian 28624 Others "" 34644002 http://rdf.ncbi.nlm.nih.gov/pubmed/34644002 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15415 15415 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28623 female VPS13B http://identifiers.org/ncbigene/157680 African - North Algerian 28623 Frontal face "" 34644002 http://rdf.ncbi.nlm.nih.gov/pubmed/34644002 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15434 15434 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28681 female VPS13B http://identifiers.org/ncbigene/157680 Other Iran 28681 Frontal face "" 34322253 http://rdf.ncbi.nlm.nih.gov/pubmed/34322253 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15434 15434 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28682 female VPS13B http://identifiers.org/ncbigene/157680 Other Iran 28682 Limbs "" 34322253 http://rdf.ncbi.nlm.nih.gov/pubmed/34322253 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15435 15435 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28683 male VPS13B http://identifiers.org/ncbigene/157680 Asian China 28683 Frontal face "" 34898996 http://rdf.ncbi.nlm.nih.gov/pubmed/34898996 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15435 15435 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28684 male VPS13B http://identifiers.org/ncbigene/157680 Asian China 28684 MRI "" 34898996 http://rdf.ncbi.nlm.nih.gov/pubmed/34898996 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15435 15435 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28685 male VPS13B http://identifiers.org/ncbigene/157680 Asian China 28685 MRI "" 34898996 http://rdf.ncbi.nlm.nih.gov/pubmed/34898996 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15435 15435 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28686 male VPS13B http://identifiers.org/ncbigene/157680 Asian China 28686 MRI "" 34898996 http://rdf.ncbi.nlm.nih.gov/pubmed/34898996 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15436 15436 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28687 female VPS13B http://identifiers.org/ncbigene/157680 Asian China 28687 Frontal face "" 40583715 http://rdf.ncbi.nlm.nih.gov/pubmed/40583715 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15436 15436 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28688 female VPS13B http://identifiers.org/ncbigene/157680 Asian China 28688 Profile "" 40583715 http://rdf.ncbi.nlm.nih.gov/pubmed/40583715 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15436 15436 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28689 female VPS13B http://identifiers.org/ncbigene/157680 Asian China 28689 Limbs "" 40583715 http://rdf.ncbi.nlm.nih.gov/pubmed/40583715 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15436 15436 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28690 female VPS13B http://identifiers.org/ncbigene/157680 Asian China 28690 Limbs "" 40583715 http://rdf.ncbi.nlm.nih.gov/pubmed/40583715 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15436 15436 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28691 female VPS13B http://identifiers.org/ncbigene/157680 Asian China 28691 Funduscopy "" 40583715 http://rdf.ncbi.nlm.nih.gov/pubmed/40583715 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15436 15436 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28692 female VPS13B http://identifiers.org/ncbigene/157680 Asian China 28692 Funduscopy "" 40583715 http://rdf.ncbi.nlm.nih.gov/pubmed/40583715 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15440 15440 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28716 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28716 Frontal face "" 20683995 http://rdf.ncbi.nlm.nih.gov/pubmed/20683995 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15441 15441 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28717 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28717 Frontal face "" 20683995 http://rdf.ncbi.nlm.nih.gov/pubmed/20683995 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15442 15442 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28718 male VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern Finnish 28718 Frontal face "" 20683995 http://rdf.ncbi.nlm.nih.gov/pubmed/20683995 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15453 15453 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28724 female VPS13B http://identifiers.org/ncbigene/157680 Asian - East Chinese 28724 Frontal face "" 33025479 http://rdf.ncbi.nlm.nih.gov/pubmed/33025479 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15453 15453 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28725 female VPS13B http://identifiers.org/ncbigene/157680 Asian - East Chinese 28725 Others "" 33025479 http://rdf.ncbi.nlm.nih.gov/pubmed/33025479 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15454 15454 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28726 female VPS13B http://identifiers.org/ncbigene/157680 Asian - East Chinese 28726 Frontal face "" 33025479 http://rdf.ncbi.nlm.nih.gov/pubmed/33025479 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15454 15454 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28727 female VPS13B http://identifiers.org/ncbigene/157680 Asian - East Chinese 28727 Frontal face "" 33025479 http://rdf.ncbi.nlm.nih.gov/pubmed/33025479 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15455 15455 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28728 male VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern Irish 28728 Frontal face "" 17786118 http://rdf.ncbi.nlm.nih.gov/pubmed/17786118 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15455 15455 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28729 male VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern Irish 28729 Frontal face "" 17786118 http://rdf.ncbi.nlm.nih.gov/pubmed/17786118 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15456 15456 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28730 female VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern Irish 28730 Frontal face "" 17786118 http://rdf.ncbi.nlm.nih.gov/pubmed/17786118 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15457 15457 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28731 female VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern Irish 28731 Frontal face "" 17786118 http://rdf.ncbi.nlm.nih.gov/pubmed/17786118 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15458 15458 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28732 female VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern Irish 28732 Frontal face "" 17786118 http://rdf.ncbi.nlm.nih.gov/pubmed/17786118 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15459 15459 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28733 male VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern Irish 28733 Frontal face "" 17786118 http://rdf.ncbi.nlm.nih.gov/pubmed/17786118 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15461 15461 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28737 male VPS13B http://identifiers.org/ncbigene/157680 Asian, Asian - West/Middle Eastern Jordanian 28737 Frontal face "" 32505691 http://rdf.ncbi.nlm.nih.gov/pubmed/32505691 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15461 15461 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28738 male VPS13B http://identifiers.org/ncbigene/157680 Asian, Asian - West/Middle Eastern Jordanian 28738 Others "" 32505691 http://rdf.ncbi.nlm.nih.gov/pubmed/32505691 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15461 15461 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28739 male VPS13B http://identifiers.org/ncbigene/157680 Asian, Asian - West/Middle Eastern Jordanian 28739 Frontal face "" 32505691 http://rdf.ncbi.nlm.nih.gov/pubmed/32505691 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15462 15462 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28740 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Jordanian 28740 Frontal face "" 32505691 http://rdf.ncbi.nlm.nih.gov/pubmed/32505691 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15463 15463 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28741 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Jordanian 28741 Frontal face "" 32505691 http://rdf.ncbi.nlm.nih.gov/pubmed/32505691 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15464 15464 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28742 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Jordanian 28742 Frontal face "" 32505691 http://rdf.ncbi.nlm.nih.gov/pubmed/32505691 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15477 15477 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28759 female ATM http://identifiers.org/ncbigene/472 European - Eastern Lithuanian 28759 Frontal face "" 30579816 http://rdf.ncbi.nlm.nih.gov/pubmed/30579816 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15477 15477 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28759 female ATM http://identifiers.org/ncbigene/472 European - Eastern Lithuanian 28759 Frontal face "" 30579816 http://rdf.ncbi.nlm.nih.gov/pubmed/30579816 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15477 15477 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28760 female ATM http://identifiers.org/ncbigene/472 European - Eastern Lithuanian 28760 Frontal face "" 30579816 http://rdf.ncbi.nlm.nih.gov/pubmed/30579816 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15477 15477 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28760 female ATM http://identifiers.org/ncbigene/472 European - Eastern Lithuanian 28760 Frontal face "" 30579816 http://rdf.ncbi.nlm.nih.gov/pubmed/30579816 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15477 15477 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28761 female ATM http://identifiers.org/ncbigene/472 European - Eastern Lithuanian 28761 Frontal face "" 30579816 http://rdf.ncbi.nlm.nih.gov/pubmed/30579816 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15477 15477 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28761 female ATM http://identifiers.org/ncbigene/472 European - Eastern Lithuanian 28761 Frontal face "" 30579816 http://rdf.ncbi.nlm.nih.gov/pubmed/30579816 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15480 15480 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28768 male VPS13B http://identifiers.org/ncbigene/157680 European - Southern Aegean islands 28768 Frontal face "" 23557616 http://rdf.ncbi.nlm.nih.gov/pubmed/23557616 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15480 15480 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28769 male VPS13B http://identifiers.org/ncbigene/157680 European - Southern Aegean islands 28769 Others "" 23557616 http://rdf.ncbi.nlm.nih.gov/pubmed/23557616 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15484 15484 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28779 female VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28779 Frontal face "" 26104215 http://rdf.ncbi.nlm.nih.gov/pubmed/26104215 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15485 15485 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28780 female VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28780 Frontal face "" 26104215 http://rdf.ncbi.nlm.nih.gov/pubmed/26104215 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15486 15486 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28781 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28781 Frontal face "" 26104215 http://rdf.ncbi.nlm.nih.gov/pubmed/26104215 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15486 15486 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28782 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28782 Profile "" 26104215 http://rdf.ncbi.nlm.nih.gov/pubmed/26104215 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15487 15487 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28783 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28783 Frontal face "" 26104215 http://rdf.ncbi.nlm.nih.gov/pubmed/26104215 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15488 15488 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28784 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28784 Frontal face "" 26104215 http://rdf.ncbi.nlm.nih.gov/pubmed/26104215 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15489 15489 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28785 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28785 Frontal face "" 26104215 http://rdf.ncbi.nlm.nih.gov/pubmed/26104215 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15490 15490 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28786 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28786 Frontal face "" 26104215 http://rdf.ncbi.nlm.nih.gov/pubmed/26104215 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15491 15491 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28787 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian Pakistani 28787 Frontal face "" 26104215 http://rdf.ncbi.nlm.nih.gov/pubmed/26104215 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15561 15561 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28909 male VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern German 28909 Frontal face "" 15154116 http://rdf.ncbi.nlm.nih.gov/pubmed/15154116 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15562 15562 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28910 female VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern German 28910 Frontal face "" 15154116 http://rdf.ncbi.nlm.nih.gov/pubmed/15154116 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15563 15563 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28911 male VPS13B http://identifiers.org/ncbigene/157680 European - Eastern Poland 28911 Frontal face "" 15154116 http://rdf.ncbi.nlm.nih.gov/pubmed/15154116 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15578 15578 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28927 male VPS13B http://identifiers.org/ncbigene/157680 European - Eastern Polish 28927 Frontal face "" 15154116 http://rdf.ncbi.nlm.nih.gov/pubmed/15154116 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15579 15579 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28928 male VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern German 28928 Frontal face "" 15154116 http://rdf.ncbi.nlm.nih.gov/pubmed/15154116 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15580 15580 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28929 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 28929 Frontal face "" 15154116 http://rdf.ncbi.nlm.nih.gov/pubmed/15154116 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15581 15581 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28930 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 28930 Frontal face "" 15154116 http://rdf.ncbi.nlm.nih.gov/pubmed/15154116 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15582 15582 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28931 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Lebanese 28931 Frontal face "" 15154116 http://rdf.ncbi.nlm.nih.gov/pubmed/15154116 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15794 15794 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29596 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 Asian - West/Middle Eastern Iranian 29596 Frontal face "" 31174542 http://rdf.ncbi.nlm.nih.gov/pubmed/31174542 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15794 15794 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29596 female ICR1 http://identifiers.org/ncbigene/105259599 Asian - West/Middle Eastern Iranian 29596 Frontal face "" 31174542 http://rdf.ncbi.nlm.nih.gov/pubmed/31174542 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15795 15795 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29597 female ICR1 http://identifiers.org/ncbigene/105259599 Asian - West/Middle Eastern Iranian 29597 Frontal face "" 31174542 http://rdf.ncbi.nlm.nih.gov/pubmed/31174542 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15795 15795 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29597 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 Asian - West/Middle Eastern Iranian 29597 Frontal face "" 31174542 http://rdf.ncbi.nlm.nih.gov/pubmed/31174542 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15795 15795 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29598 female ICR1 http://identifiers.org/ncbigene/105259599 Asian - West/Middle Eastern Iranian 29598 Profile "" 31174542 http://rdf.ncbi.nlm.nih.gov/pubmed/31174542 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15795 15795 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29598 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 Asian - West/Middle Eastern Iranian 29598 Profile "" 31174542 http://rdf.ncbi.nlm.nih.gov/pubmed/31174542 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14799 14799 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27195 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27195 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14799 14799 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27195 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27195 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14802 14802 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27198 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27198 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14802 14802 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27198 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27198 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14803 14803 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27199 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27199 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14803 14803 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27199 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27199 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14804 14804 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27200 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27200 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14804 14804 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27200 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27200 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14805 14805 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27201 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27201 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14805 14805 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27201 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27201 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14806 14806 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27202 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27202 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14806 14806 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27202 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27202 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14807 14807 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27203 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27203 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14807 14807 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27203 male FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27203 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14808 14808 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27204 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27204 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14808 14808 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27204 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27204 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14809 14809 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27205 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27205 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14809 14809 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27205 female FMR1 http://identifiers.org/ncbigene/2332 Other Indonesia 27205 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15294 15294 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28361 female VPS13B http://identifiers.org/ncbigene/157680 African - Sub-Saharan mixed ancestry 28361 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15535 15535 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28873 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Eastern Polish (Caucasian) 28873 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15535 15535 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28874 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Eastern Polish (Caucasian) 28874 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15535 15535 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28875 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Eastern Polish (Caucasian) 28875 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15535 15535 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28876 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Eastern Polish (Caucasian) 28876 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15535 15535 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28877 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Eastern Polish (Caucasian) 28877 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15535 15535 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28878 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Eastern Polish (Caucasian) 28878 Limbs "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15535 15535 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28879 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian, European - Eastern Polish (Caucasian) 28879 Limbs "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15626 15626 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28994 female VPS13B http://identifiers.org/ncbigene/157680 European German 28994 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15626 15626 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28995 female VPS13B http://identifiers.org/ncbigene/157680 European German 28995 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15627 15627 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28996 female VPS13B http://identifiers.org/ncbigene/157680 American - Latin/Hispanic South American origin. From Ecuador. 28996 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15627 15627 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28997 female VPS13B http://identifiers.org/ncbigene/157680 American - Latin/Hispanic South American origin. From Ecuador. 28997 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15642 15642 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29028 male VPS13B http://identifiers.org/ncbigene/157680 Arab Egyptian 29028 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15649 15649 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29039 male VPS13B http://identifiers.org/ncbigene/157680 European Argentina 29039 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15649 15649 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29040 male VPS13B http://identifiers.org/ncbigene/157680 European Argentina 29040 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15649 15649 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29041 male VPS13B http://identifiers.org/ncbigene/157680 European Argentina 29041 Consent "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15655 15655 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29101 male VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29101 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15655 15655 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29103 male VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29103 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15655 15655 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29106 male VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29106 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15655 15655 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29107 male VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29107 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15655 15655 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29108 male VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29108 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15655 15655 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29110 male VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29110 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15656 15656 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29117 female VPS13B http://identifiers.org/ncbigene/157680 European Australian 29117 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15656 15656 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29118 female VPS13B http://identifiers.org/ncbigene/157680 European Australian 29118 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15656 15656 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29119 female VPS13B http://identifiers.org/ncbigene/157680 European Australian 29119 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15656 15656 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29120 female VPS13B http://identifiers.org/ncbigene/157680 European Australian 29120 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15656 15656 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29121 female VPS13B http://identifiers.org/ncbigene/157680 European Australian 29121 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15656 15656 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29125 female VPS13B http://identifiers.org/ncbigene/157680 European Australian 29125 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15656 15656 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29126 female VPS13B http://identifiers.org/ncbigene/157680 European Australian 29126 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15658 15658 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29135 male VPS13B http://identifiers.org/ncbigene/157680 European mixed-European descent 29135 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15658 15658 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29136 male VPS13B http://identifiers.org/ncbigene/157680 European mixed-European descent 29136 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15658 15658 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29137 male VPS13B http://identifiers.org/ncbigene/157680 European mixed-European descent 29137 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15658 15658 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29138 male VPS13B http://identifiers.org/ncbigene/157680 European mixed-European descent 29138 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15658 15658 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29139 male VPS13B http://identifiers.org/ncbigene/157680 European mixed-European descent 29139 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15660 15660 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29095 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian mix of Czech/german and French/cajun 29095 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15660 15660 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29096 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian mix of Czech/german and French/cajun 29096 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15660 15660 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29097 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian mix of Czech/german and French/cajun 29097 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15665 15665 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29141 male VPS13B http://identifiers.org/ncbigene/157680 European German and English 29141 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15665 15665 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29142 male VPS13B http://identifiers.org/ncbigene/157680 European German and English 29142 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15665 15665 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29143 male VPS13B http://identifiers.org/ncbigene/157680 European German and English 29143 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15665 15665 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29144 male VPS13B http://identifiers.org/ncbigene/157680 European German and English 29144 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15666 15666 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29159 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian, European Indian, Caucasian (Scot Irish) 29159 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15666 15666 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29160 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian, European Indian, Caucasian (Scot Irish) 29160 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15666 15666 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29161 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian, European Indian, Caucasian (Scot Irish) 29161 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15666 15666 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29163 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian, European Indian, Caucasian (Scot Irish) 29163 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15666 15666 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29164 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian, European Indian, Caucasian (Scot Irish) 29164 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15666 15666 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29165 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian, European Indian, Caucasian (Scot Irish) 29165 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15685 15685 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29112 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 29112 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15689 15689 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29116 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Turkish 29116 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15691 15691 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29123 male VPS13B http://identifiers.org/ncbigene/157680 Arab Egyptian 29123 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29174 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29174 Lab results (genetic testing) "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29237 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29237 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29238 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29238 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29239 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29239 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29240 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29240 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29241 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29241 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29242 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29242 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29243 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29243 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29244 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29244 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29245 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29245 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29246 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29246 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29247 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29247 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29248 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29248 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29249 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29249 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29250 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29250 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29251 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29251 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29252 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29252 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29253 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29253 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15694 15694 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29254 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern Saudi 29254 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15695 15695 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29153 male VPS13B http://identifiers.org/ncbigene/157680 European English and German and Irish 29153 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15695 15695 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29154 male VPS13B http://identifiers.org/ncbigene/157680 European English and German and Irish 29154 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15695 15695 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29155 male VPS13B http://identifiers.org/ncbigene/157680 European English and German and Irish 29155 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15695 15695 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29156 male VPS13B http://identifiers.org/ncbigene/157680 European English and German and Irish 29156 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15695 15695 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29157 male VPS13B http://identifiers.org/ncbigene/157680 European English and German and Irish 29157 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15695 15695 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29158 male VPS13B http://identifiers.org/ncbigene/157680 European English and German and Irish 29158 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15699 15699 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29207 female VPS13B http://identifiers.org/ncbigene/157680 European White 29207 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15699 15699 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29208 female VPS13B http://identifiers.org/ncbigene/157680 European White 29208 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15699 15699 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29209 female VPS13B http://identifiers.org/ncbigene/157680 European White 29209 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15699 15699 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29210 female VPS13B http://identifiers.org/ncbigene/157680 European White 29210 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15699 15699 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29211 female VPS13B http://identifiers.org/ncbigene/157680 European White 29211 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15699 15699 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29212 female VPS13B http://identifiers.org/ncbigene/157680 European White 29212 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15699 15699 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29213 female VPS13B http://identifiers.org/ncbigene/157680 European White 29213 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15718 15718 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29203 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 29203 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15718 15718 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29204 male VPS13B http://identifiers.org/ncbigene/157680 European Italian 29204 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15737 15737 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29257 female VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29257 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15737 15737 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29258 female VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29258 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15737 15737 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29259 female VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29259 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15737 15737 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29260 female VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29260 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15737 15737 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29261 female VPS13B http://identifiers.org/ncbigene/157680 European Caucasian mix of German, Irish, Italian, Polish, Norwegian 29261 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15738 15738 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29262 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian mix of Czech/german and French/cajun 29262 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15738 15738 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29263 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian mix of Czech/german and French/cajun 29263 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15738 15738 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29264 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian mix of Czech/german and French/cajun 29264 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15758 15758 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29518 female VPS13B http://identifiers.org/ncbigene/157680 Oceanian/Pacific Islander Dutch-Caribbean descent (Dutch Antilles) 29518 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15758 15758 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29519 female VPS13B http://identifiers.org/ncbigene/157680 Oceanian/Pacific Islander Dutch-Caribbean descent (Dutch Antilles) 29519 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15758 15758 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29520 female VPS13B http://identifiers.org/ncbigene/157680 Oceanian/Pacific Islander Dutch-Caribbean descent (Dutch Antilles) 29520 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15758 15758 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29521 female VPS13B http://identifiers.org/ncbigene/157680 Oceanian/Pacific Islander Dutch-Caribbean descent (Dutch Antilles) 29521 Limbs "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14797 14797 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27193 female FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 27193 Frontal face "" 34395123 http://rdf.ncbi.nlm.nih.gov/pubmed/34395123 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14797 14797 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27193 female FMR1 http://identifiers.org/ncbigene/2332 Unknown "" 27193 Frontal face "" 34395123 http://rdf.ncbi.nlm.nih.gov/pubmed/34395123 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14798 14798 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27194 female FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 27194 Frontal face "" 17851581 http://rdf.ncbi.nlm.nih.gov/pubmed/17851581 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14798 14798 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27194 female FMR1 http://identifiers.org/ncbigene/2332 Caucasian "" 27194 Frontal face "" 17851581 http://rdf.ncbi.nlm.nih.gov/pubmed/17851581 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15220 15220 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28201 male VPS13B http://identifiers.org/ncbigene/157680 Asian "" 28201 Frontal face "" 36073289 http://rdf.ncbi.nlm.nih.gov/pubmed/36073289 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15220 15220 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28228 male VPS13B http://identifiers.org/ncbigene/157680 Asian "" 28228 Others "" 36073289 http://rdf.ncbi.nlm.nih.gov/pubmed/36073289 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15220 15220 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28229 male VPS13B http://identifiers.org/ncbigene/157680 Asian "" 28229 Limbs "" 36073289 http://rdf.ncbi.nlm.nih.gov/pubmed/36073289 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15221 15221 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28202 male VPS13B http://identifiers.org/ncbigene/157680 Asian "" 28202 Frontal face "" 36073289 http://rdf.ncbi.nlm.nih.gov/pubmed/36073289 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15221 15221 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28225 male VPS13B http://identifiers.org/ncbigene/157680 Asian "" 28225 Others "" 36073289 http://rdf.ncbi.nlm.nih.gov/pubmed/36073289 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15221 15221 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28226 male VPS13B http://identifiers.org/ncbigene/157680 Asian "" 28226 Limbs "" 36073289 http://rdf.ncbi.nlm.nih.gov/pubmed/36073289 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15221 15221 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28227 male VPS13B http://identifiers.org/ncbigene/157680 Asian "" 28227 Limbs "" 36073289 http://rdf.ncbi.nlm.nih.gov/pubmed/36073289 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15239 15239 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28244 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28244 Frontal face "" 10466416 http://rdf.ncbi.nlm.nih.gov/pubmed/10466416 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15240 15240 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28245 female VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28245 Frontal face "" 10466416 http://rdf.ncbi.nlm.nih.gov/pubmed/10466416 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15241 15241 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28246 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28246 Others "" 10466416 http://rdf.ncbi.nlm.nih.gov/pubmed/10466416 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15327 15327 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28406 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 28406 Frontal face "" 23352163 http://rdf.ncbi.nlm.nih.gov/pubmed/23352163 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15327 15327 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28407 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 28407 Profile "" 23352163 http://rdf.ncbi.nlm.nih.gov/pubmed/23352163 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15400 15400 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28569 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28569 Frontal face "" 39221324 http://rdf.ncbi.nlm.nih.gov/pubmed/39221324 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15400 15400 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28570 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28570 Frontal face "" 39221324 http://rdf.ncbi.nlm.nih.gov/pubmed/39221324 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15400 15400 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28571 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28571 Others "" 39221324 http://rdf.ncbi.nlm.nih.gov/pubmed/39221324 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15400 15400 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28572 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28572 Others "" 39221324 http://rdf.ncbi.nlm.nih.gov/pubmed/39221324 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15400 15400 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28573 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28573 Limbs "" 39221324 http://rdf.ncbi.nlm.nih.gov/pubmed/39221324 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15406 15406 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28580 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 28580 Frontal face "" 17383910 http://rdf.ncbi.nlm.nih.gov/pubmed/17383910 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15411 15411 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28607 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28607 Frontal face "" 37986394 http://rdf.ncbi.nlm.nih.gov/pubmed/37986394 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15411 15411 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28608 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28608 Others "" 37986394 http://rdf.ncbi.nlm.nih.gov/pubmed/37986394 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15411 15411 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28609 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28609 Others "" 37986394 http://rdf.ncbi.nlm.nih.gov/pubmed/37986394 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15411 15411 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28610 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28610 Funduscopy "" 37986394 http://rdf.ncbi.nlm.nih.gov/pubmed/37986394 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15411 15411 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28611 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28611 Funduscopy "" 37986394 http://rdf.ncbi.nlm.nih.gov/pubmed/37986394 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15411 15411 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28612 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28612 Others "" 37986394 http://rdf.ncbi.nlm.nih.gov/pubmed/37986394 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15411 15411 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28613 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28613 Others "" 37986394 http://rdf.ncbi.nlm.nih.gov/pubmed/37986394 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15411 15411 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28614 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28614 Optical coherence tomography "" 37986394 http://rdf.ncbi.nlm.nih.gov/pubmed/37986394 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15411 15411 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28615 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28615 Optical coherence tomography "" 37986394 http://rdf.ncbi.nlm.nih.gov/pubmed/37986394 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28762 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28762 Frontal face "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28762 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28762 Frontal face "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28763 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28763 Frontal face "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28763 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28763 Frontal face "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28764 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28764 MRI "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28764 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28764 MRI "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28765 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28765 MRI "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28765 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28765 MRI "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28766 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28766 Others "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15478 15478 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28766 female ATM http://identifiers.org/ncbigene/472 Unknown "" 28766 Others "" 24954719 http://rdf.ncbi.nlm.nih.gov/pubmed/24954719 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15547 15547 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28893 female VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28893 Frontal face "" 28631888 http://rdf.ncbi.nlm.nih.gov/pubmed/28631888 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15548 15548 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28894 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28894 Frontal face "" 25271213 http://rdf.ncbi.nlm.nih.gov/pubmed/25271213 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15548 15548 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28895 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28895 Others "" 25271213 http://rdf.ncbi.nlm.nih.gov/pubmed/25271213 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15548 15548 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28896 male VPS13B http://identifiers.org/ncbigene/157680 Unknown "" 28896 Others "" 25271213 http://rdf.ncbi.nlm.nih.gov/pubmed/25271213 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15784 15784 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29569 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29569 Frontal face "" 21920939 http://rdf.ncbi.nlm.nih.gov/pubmed/21920939 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15785 15785 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29572 female KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29572 Frontal face "" 21920939 http://rdf.ncbi.nlm.nih.gov/pubmed/21920939 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15796 15796 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29599 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29599 Frontal face "" 35218326 http://rdf.ncbi.nlm.nih.gov/pubmed/35218326 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15796 15796 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29599 male ANK1 http://identifiers.org/ncbigene/286 Unknown "" 29599 Frontal face "" 35218326 http://rdf.ncbi.nlm.nih.gov/pubmed/35218326 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15796 15796 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29600 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29600 Frontal face "" 35218326 http://rdf.ncbi.nlm.nih.gov/pubmed/35218326 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15796 15796 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29600 male ANK1 http://identifiers.org/ncbigene/286 Unknown "" 29600 Frontal face "" 35218326 http://rdf.ncbi.nlm.nih.gov/pubmed/35218326 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15796 15796 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29601 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29601 Others "" 35218326 http://rdf.ncbi.nlm.nih.gov/pubmed/35218326 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15796 15796 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29601 male ANK1 http://identifiers.org/ncbigene/286 Unknown "" 29601 Others "" 35218326 http://rdf.ncbi.nlm.nih.gov/pubmed/35218326 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15807 15807 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29624 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29624 Frontal face "" 19533777 http://rdf.ncbi.nlm.nih.gov/pubmed/19533777 "" "" "" NANDO:2200959 MONDO:0007534 OMIM:130650 https://db.gestaltmatcher.org/patients/15808 15808 BECKWITH-WIEDEMANN SYNDROME https://db.gestaltmatcher.org/patients/image_29625 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29625 Frontal face "" 17044870 http://rdf.ncbi.nlm.nih.gov/pubmed/17044870 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/15809 15809 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_29626 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29626 Frontal face "" 14997421 http://rdf.ncbi.nlm.nih.gov/pubmed/14997421 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/15809 15809 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_29626 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29626 Frontal face "" 14997421 http://rdf.ncbi.nlm.nih.gov/pubmed/14997421 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/15809 15809 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_29627 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29627 Profile "" 14997421 http://rdf.ncbi.nlm.nih.gov/pubmed/14997421 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/15809 15809 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_29627 male KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29627 Profile "" 14997421 http://rdf.ncbi.nlm.nih.gov/pubmed/14997421 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/15811 15811 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_29628 unknown KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29628 Frontal face "" 14997421 http://rdf.ncbi.nlm.nih.gov/pubmed/14997421 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/15811 15811 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_29628 unknown KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29628 Frontal face "" 14997421 http://rdf.ncbi.nlm.nih.gov/pubmed/14997421 "" "" "" NANDO:1200679 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/15811 15811 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_29629 unknown KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29629 Profile "" 14997421 http://rdf.ncbi.nlm.nih.gov/pubmed/14997421 "" "" "" NANDO:2200953 MONDO:0019349 OMIM:117550 https://db.gestaltmatcher.org/patients/15811 15811 SOTOS SYNDROME https://db.gestaltmatcher.org/patients/image_29629 unknown KCNQ1OT1 http://identifiers.org/ncbigene/10984 Unknown "" 29629 Profile "" 14997421 http://rdf.ncbi.nlm.nih.gov/pubmed/14997421 "" "" "" 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 "" 24311531 http://rdf.ncbi.nlm.nih.gov/pubmed/24311531 "" "" "" 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 "" 24311531 http://rdf.ncbi.nlm.nih.gov/pubmed/24311531 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6710 6710 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_24336 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 24336 Limbs "" 24311531 http://rdf.ncbi.nlm.nih.gov/pubmed/24311531 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/6710 6710 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_24337 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 24337 Lab results (genetic testing) "" 24311531 http://rdf.ncbi.nlm.nih.gov/pubmed/24311531 "" "" "" 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 "" 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 "" "" "" 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 "" 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6816 6816 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_28693 male HRAS http://identifiers.org/ncbigene/3265 European "" 28693 Limbs "" 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6816 6816 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_28693 male HRAS http://identifiers.org/ncbigene/3265 European "" 28693 Limbs "" 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6816 6816 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_28694 male HRAS http://identifiers.org/ncbigene/3265 European "" 28694 Limbs "" 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6816 6816 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_28694 male HRAS http://identifiers.org/ncbigene/3265 European "" 28694 Limbs "" 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 "" "" "" NANDO:1200463 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6816 6816 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_28695 male HRAS http://identifiers.org/ncbigene/3265 European "" 28695 Limbs "" 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 "" "" "" NANDO:2200971 MONDO:0009026 OMIM:218040 https://db.gestaltmatcher.org/patients/6816 6816 COSTELLO SYNDROME https://db.gestaltmatcher.org/patients/image_28695 male HRAS http://identifiers.org/ncbigene/3265 European "" 28695 Limbs "" 22926243 http://rdf.ncbi.nlm.nih.gov/pubmed/22926243 "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14717 14717 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26967 male NBN http://identifiers.org/ncbigene/4683 Unknown "" 26967 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14717 14717 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26967 male NBN http://identifiers.org/ncbigene/4683 Unknown "" 26967 Frontal face "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14718 14718 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26968 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26968 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14718 14718 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26968 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26968 Frontal face "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14718 14718 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26969 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26969 Profile "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14718 14718 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26969 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26969 Profile "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14719 14719 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26970 male NBN http://identifiers.org/ncbigene/4683 Unknown "" 26970 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14719 14719 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26970 male NBN http://identifiers.org/ncbigene/4683 Unknown "" 26970 Frontal face "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14720 14720 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26971 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26971 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14720 14720 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26971 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26971 Frontal face "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14721 14721 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26972 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26972 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14721 14721 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26972 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26972 Frontal face "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26973 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26973 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26973 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26973 Frontal face "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26974 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26974 Frontal face "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26974 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26974 Frontal face "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26975 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26975 Others "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26975 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26975 Others "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26976 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26976 Limbs "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26976 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26976 Limbs "" "" "" "" "" "" NANDO:1200332 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26977 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26977 Limbs "" "" "" "" "" "" NANDO:2200706 MONDO:0009623 OMIM:251260 https://db.gestaltmatcher.org/patients/14722 14722 NIJMEGEN BREAKAGE SYNDROME https://db.gestaltmatcher.org/patients/image_26977 female NBN http://identifiers.org/ncbigene/4683 Unknown "" 26977 Limbs "" "" "" "" "" "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/14758 14758 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_27046 female EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern "" 27046 Frontal face "" "" "" "" "" "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/14758 14758 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_27046 female EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern "" 27046 Frontal face "" "" "" "" "" "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/14758 14758 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_27047 female EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern "" 27047 Profile "" "" "" "" "" "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/14758 14758 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_27047 female EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern "" 27047 Profile "" "" "" "" "" "" NANDO:1200659 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/14758 14758 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_27048 female EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern "" 27048 Profile "" "" "" "" "" "" NANDO:2200957 MONDO:0010193 OMIM:277590 https://db.gestaltmatcher.org/patients/14758 14758 WEAVER SYNDROME https://db.gestaltmatcher.org/patients/image_27048 female EZH2 http://identifiers.org/ncbigene/2146 European - Northwestern "" 27048 Profile "" "" "" "" "" "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/15389 15389 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_28545 female KMT2A http://identifiers.org/ncbigene/4297 American - Latin/Hispanic "" 28545 Frontal face "" "" "" "" "" "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/15389 15389 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_28546 female KMT2A http://identifiers.org/ncbigene/4297 American - Latin/Hispanic "" 28546 Profile "" "" "" "" "" "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/15389 15389 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_28547 female KMT2A http://identifiers.org/ncbigene/4297 American - Latin/Hispanic "" 28547 Limbs "" "" "" "" "" "" NANDO:2201417 MONDO:0011518 OMIM:605130 https://db.gestaltmatcher.org/patients/15389 15389 WIEDEMANN-STEINER SYNDROME https://db.gestaltmatcher.org/patients/image_28548 female KMT2A http://identifiers.org/ncbigene/4297 American - Latin/Hispanic "" 28548 Limbs "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15501 15501 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28838 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28838 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15501 15501 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28839 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28839 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15501 15501 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28840 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28840 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15501 15501 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28841 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28841 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15501 15501 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28842 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28842 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15501 15501 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28843 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28843 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15501 15501 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28844 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28844 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15501 15501 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28845 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28845 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15543 15543 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28889 male VPS13B http://identifiers.org/ncbigene/157680 Asian - South/Indian "" 28889 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15583 15583 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28932 male VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern "" 28932 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15583 15583 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28933 male VPS13B http://identifiers.org/ncbigene/157680 European - Northwestern "" 28933 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15591 15591 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28949 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28949 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15591 15591 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28950 male VPS13B http://identifiers.org/ncbigene/157680 European "" 28950 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15611 15611 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28968 male VPS13B http://identifiers.org/ncbigene/157680 European, Jewish - Ashkenazi "" 28968 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15612 15612 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28969 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 28969 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15612 15612 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28970 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 28970 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15612 15612 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28971 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 28971 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15612 15612 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28972 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 28972 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15612 15612 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28973 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 28973 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15612 15612 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28973 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 28973 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15612 15612 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28974 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 28974 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15629 15629 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29019 female VPS13B http://identifiers.org/ncbigene/157680 European "" 29019 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15629 15629 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29020 female VPS13B http://identifiers.org/ncbigene/157680 European "" 29020 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15629 15629 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29021 female VPS13B http://identifiers.org/ncbigene/157680 European "" 29021 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15631 15631 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29022 male VPS13B http://identifiers.org/ncbigene/157680 European - Southern "" 29022 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15631 15631 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29023 male VPS13B http://identifiers.org/ncbigene/157680 European - Southern "" 29023 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15636 15636 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29031 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 29031 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15636 15636 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29032 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 29032 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15636 15636 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29033 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 29033 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15641 15641 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29066 male VPS13B http://identifiers.org/ncbigene/157680 European "" 29066 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15641 15641 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29067 male VPS13B http://identifiers.org/ncbigene/157680 European "" 29067 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15641 15641 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29068 male VPS13B http://identifiers.org/ncbigene/157680 European "" 29068 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15641 15641 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29069 male VPS13B http://identifiers.org/ncbigene/157680 European "" 29069 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15641 15641 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29140 male VPS13B http://identifiers.org/ncbigene/157680 European "" 29140 Consent "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15646 15646 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29034 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 29034 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15646 15646 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29035 male VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 29035 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15647 15647 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29036 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 29036 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15647 15647 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29037 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 29037 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15648 15648 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29038 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 29038 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15650 15650 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29042 female VPS13B http://identifiers.org/ncbigene/157680 Asian - West/Middle Eastern "" 29042 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15657 15657 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29053 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29053 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15657 15657 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29054 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29054 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15657 15657 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29055 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29055 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15657 15657 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29056 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29056 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15657 15657 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29057 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29057 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15657 15657 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29058 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29058 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15657 15657 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29059 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29059 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15657 15657 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29060 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29060 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15659 15659 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29150 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29150 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15659 15659 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29151 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29151 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15659 15659 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29152 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29152 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15661 15661 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29127 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29127 Profile "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15661 15661 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29128 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29128 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15661 15661 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29129 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29129 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15661 15661 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29130 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29130 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15661 15661 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29131 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29131 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15661 15661 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29132 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29132 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15661 15661 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29133 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29133 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15661 15661 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29134 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29134 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15668 15668 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29232 female VPS13B http://identifiers.org/ncbigene/157680 European "" 29232 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15668 15668 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29233 female VPS13B http://identifiers.org/ncbigene/157680 European "" 29233 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15668 15668 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29234 female VPS13B http://identifiers.org/ncbigene/157680 European "" 29234 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15668 15668 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29235 female VPS13B http://identifiers.org/ncbigene/157680 European "" 29235 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15668 15668 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29236 female VPS13B http://identifiers.org/ncbigene/157680 European "" 29236 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15690 15690 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29122 male VPS13B http://identifiers.org/ncbigene/157680 Arab "" 29122 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15698 15698 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29206 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29206 Limbs "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15698 15698 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29231 female VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29231 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15703 15703 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29220 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29220 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15703 15703 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29221 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29221 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15703 15703 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29222 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29222 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15703 15703 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_29223 male VPS13B http://identifiers.org/ncbigene/157680 Caucasian "" 29223 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/15544 15544 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_28890 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 28890 Frontal face "" 10842286 http://rdf.ncbi.nlm.nih.gov/pubmed/10842286 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/15544 15544 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_28890 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 28890 Frontal face "" 10842286 http://rdf.ncbi.nlm.nih.gov/pubmed/10842286 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/15545 15545 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_28891 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 28891 Frontal face "" 10842286 http://rdf.ncbi.nlm.nih.gov/pubmed/10842286 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/15545 15545 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_28891 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 28891 Frontal face "" 10842286 http://rdf.ncbi.nlm.nih.gov/pubmed/10842286 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/15546 15546 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_28892 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 28892 Frontal face "" 10842286 http://rdf.ncbi.nlm.nih.gov/pubmed/10842286 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/15546 15546 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_28892 male FMR1 http://identifiers.org/ncbigene/2332 "" "" 28892 Frontal face "" 10842286 http://rdf.ncbi.nlm.nih.gov/pubmed/10842286 "" "" "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/14785 14785 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_27180 male KAT6B http://identifiers.org/ncbigene/23522 "" "" 27180 Frontal face "" "" "" "" "" "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/14785 14785 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_27181 male KAT6B http://identifiers.org/ncbigene/23522 "" "" 27181 Frontal face "" "" "" "" "" "" NANDO:2200982 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/14785 14785 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_27180 male KAT6B http://identifiers.org/ncbigene/23522 "" "" 27180 Frontal face "" "" "" "" "" "" NANDO:1200681 MONDO:0011365 OMIM:603736 https://db.gestaltmatcher.org/patients/14785 14785 OHDO SYNDROME, SBBYS VARIANT https://db.gestaltmatcher.org/patients/image_27181 male KAT6B http://identifiers.org/ncbigene/23522 "" "" 27181 Frontal face "" "" "" "" "" "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/14847 14847 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_27289 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 27289 Frontal face "" "" "" "" "" "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/14847 14847 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_27288 female TCF4 http://identifiers.org/ncbigene/6925 "" "" 27288 Frontal face "" "" "" "" "" "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/14848 14848 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_27291 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 27291 Frontal face "" "" "" "" "" "" NANDO:2201419 MONDO:0012589 OMIM:610954 https://db.gestaltmatcher.org/patients/14848 14848 PITT-HOPKINS SYNDROME https://db.gestaltmatcher.org/patients/image_27290 male TCF4 http://identifiers.org/ncbigene/6925 "" "" 27290 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15329 15329 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28411 male "" "" American - Latin/Hispanic Brazil 28411 Frontal face "" 20098905 http://rdf.ncbi.nlm.nih.gov/pubmed/20098905 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15330 15330 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28412 male "" "" American - Latin/Hispanic Brazil 28412 Frontal face "" 20098905 http://rdf.ncbi.nlm.nih.gov/pubmed/20098905 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15383 15383 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28519 male "" "" Asian - East Japanese 28519 Profile "" 2240027 http://rdf.ncbi.nlm.nih.gov/pubmed/2240027 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15383 15383 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28518 male "" "" Asian - East Japanese 28518 Frontal face "" 2240027 http://rdf.ncbi.nlm.nih.gov/pubmed/2240027 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15384 15384 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28521 male "" "" Asian - East Japanese 28521 Profile "" 2240027 http://rdf.ncbi.nlm.nih.gov/pubmed/2240027 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15384 15384 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28520 male "" "" Asian - East Japanese 28520 Frontal face "" 2240027 http://rdf.ncbi.nlm.nih.gov/pubmed/2240027 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15397 15397 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28565 male "" "" Asian - West/Middle Eastern, European Turkey 28565 Others "" 14738954 http://rdf.ncbi.nlm.nih.gov/pubmed/14738954 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15397 15397 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28564 male "" "" Asian - West/Middle Eastern, European Turkey 28564 Frontal face "" 14738954 http://rdf.ncbi.nlm.nih.gov/pubmed/14738954 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15418 15418 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28630 male "" "" Other Finland 28630 Profile "" 12220454 http://rdf.ncbi.nlm.nih.gov/pubmed/12220454 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15418 15418 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28629 male "" "" Other Finland 28629 Frontal face "" 12220454 http://rdf.ncbi.nlm.nih.gov/pubmed/12220454 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15419 15419 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28632 male "" "" Other Finland 28632 Profile "" 12220454 http://rdf.ncbi.nlm.nih.gov/pubmed/12220454 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15419 15419 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28631 male "" "" Other Finland 28631 Frontal face "" 12220454 http://rdf.ncbi.nlm.nih.gov/pubmed/12220454 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15420 15420 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28634 male "" "" Other Finland 28634 Funduscopy "" 10964838 http://rdf.ncbi.nlm.nih.gov/pubmed/10964838 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15420 15420 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28636 male "" "" Other Finland 28636 Funduscopy "" 10964838 http://rdf.ncbi.nlm.nih.gov/pubmed/10964838 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15420 15420 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28635 male "" "" Other Finland 28635 Frontal face "" 10964838 http://rdf.ncbi.nlm.nih.gov/pubmed/10964838 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15420 15420 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28633 male "" "" Other Finland 28633 Frontal face "" 10964838 http://rdf.ncbi.nlm.nih.gov/pubmed/10964838 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15421 15421 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28638 female "" "" Other Finland 28638 Funduscopy "" 10964838 http://rdf.ncbi.nlm.nih.gov/pubmed/10964838 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15421 15421 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28640 female "" "" Other Finland 28640 Funduscopy "" 10964838 http://rdf.ncbi.nlm.nih.gov/pubmed/10964838 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15421 15421 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28639 female "" "" Other Finland 28639 Frontal face "" 10964838 http://rdf.ncbi.nlm.nih.gov/pubmed/10964838 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15421 15421 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28637 female "" "" Other Finland 28637 Frontal face "" 10964838 http://rdf.ncbi.nlm.nih.gov/pubmed/10964838 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15465 15465 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28744 male "" "" Asian - East Japanese 28744 Frontal face "" 12503195 http://rdf.ncbi.nlm.nih.gov/pubmed/12503195 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14810 14810 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27206 male "" "" Other Indonesia 27206 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14810 14810 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27206 male "" "" Other Indonesia 27206 Frontal face "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14811 14811 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27207 female "" "" Other Indonesia 27207 Profile "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14811 14811 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27207 female "" "" Other Indonesia 27207 Profile "" "" "" "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14812 14812 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27208 female "" "" Other Indonesia 27208 Frontal face "" "" "" "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14812 14812 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27208 female "" "" Other Indonesia 27208 Frontal face "" "" "" "" "" "" NANDO:2200981 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/15473 15473 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_28752 female "" "" Asian - South/Indian Indian 28752 Frontal face "" "" "" "" "" "" NANDO:1200663 MONDO:0009341 OMIM:235730 https://db.gestaltmatcher.org/patients/15473 15473 MOWAT-WILSON SYNDROME https://db.gestaltmatcher.org/patients/image_28752 female "" "" Asian - South/Indian Indian 28752 Frontal face "" "" "" "" "" "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/14656 14656 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_26783 female "" "" Unknown "" 26783 Frontal face "" 19066619 http://rdf.ncbi.nlm.nih.gov/pubmed/19066619 "" "" "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/14656 14656 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_26783 female "" "" Unknown "" 26783 Frontal face "" 19066619 http://rdf.ncbi.nlm.nih.gov/pubmed/19066619 "" "" "" NANDO:1200678 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/14656 14656 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_26784 female "" "" Unknown "" 26784 Others "" 19066619 http://rdf.ncbi.nlm.nih.gov/pubmed/19066619 "" "" "" NANDO:2200411 MONDO:0008300 OMIM:176270 https://db.gestaltmatcher.org/patients/14656 14656 PRADER-WILLI SYNDROME https://db.gestaltmatcher.org/patients/image_26784 female "" "" Unknown "" 26784 Others "" 19066619 http://rdf.ncbi.nlm.nih.gov/pubmed/19066619 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14759 14759 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27049 female "" "" Unknown "" 27049 Frontal face "" 6711591 http://rdf.ncbi.nlm.nih.gov/pubmed/6711591 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14759 14759 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27049 female "" "" Unknown "" 27049 Frontal face "" 6711591 http://rdf.ncbi.nlm.nih.gov/pubmed/6711591 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14760 14760 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27050 male "" "" Unknown "" 27050 Frontal face "" 6711591 http://rdf.ncbi.nlm.nih.gov/pubmed/6711591 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14760 14760 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27050 male "" "" Unknown "" 27050 Frontal face "" 6711591 http://rdf.ncbi.nlm.nih.gov/pubmed/6711591 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14761 14761 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27051 male "" "" Unknown "" 27051 Frontal face "" 6711591 http://rdf.ncbi.nlm.nih.gov/pubmed/6711591 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14761 14761 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27051 male "" "" Unknown "" 27051 Frontal face "" 6711591 http://rdf.ncbi.nlm.nih.gov/pubmed/6711591 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14762 14762 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27052 male "" "" Unknown "" 27052 Frontal face "" 6711591 http://rdf.ncbi.nlm.nih.gov/pubmed/6711591 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14762 14762 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27052 male "" "" Unknown "" 27052 Frontal face "" 6711591 http://rdf.ncbi.nlm.nih.gov/pubmed/6711591 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14763 14763 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27065 female "" "" Unknown "" 27065 Frontal face "" 3398009 http://rdf.ncbi.nlm.nih.gov/pubmed/3398009 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14763 14763 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27065 female "" "" Unknown "" 27065 Frontal face "" 3398009 http://rdf.ncbi.nlm.nih.gov/pubmed/3398009 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14763 14763 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27066 female "" "" Unknown "" 27066 Frontal face "" 3398009 http://rdf.ncbi.nlm.nih.gov/pubmed/3398009 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14763 14763 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27066 female "" "" Unknown "" 27066 Frontal face "" 3398009 http://rdf.ncbi.nlm.nih.gov/pubmed/3398009 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14776 14776 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27067 female "" "" Unknown "" 27067 Frontal face "" 3398009 http://rdf.ncbi.nlm.nih.gov/pubmed/3398009 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14776 14776 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27067 female "" "" Unknown "" 27067 Frontal face "" 3398009 http://rdf.ncbi.nlm.nih.gov/pubmed/3398009 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14777 14777 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27068 female "" "" Unknown "" 27068 Frontal face "" 3398009 http://rdf.ncbi.nlm.nih.gov/pubmed/3398009 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14777 14777 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27068 female "" "" Unknown "" 27068 Frontal face "" 3398009 http://rdf.ncbi.nlm.nih.gov/pubmed/3398009 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14778 14778 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27070 female "" "" Unknown "" 27070 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14778 14778 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27070 female "" "" Unknown "" 27070 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14779 14779 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27069 female "" "" Unknown "" 27069 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14779 14779 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27069 female "" "" Unknown "" 27069 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14780 14780 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27071 male "" "" Unknown "" 27071 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14780 14780 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27071 male "" "" Unknown "" 27071 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14781 14781 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27072 male "" "" Unknown "" 27072 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14781 14781 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27072 male "" "" Unknown "" 27072 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14782 14782 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27074 male "" "" Unknown "" 27074 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14782 14782 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27074 male "" "" Unknown "" 27074 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14783 14783 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27073 male "" "" Unknown "" 27073 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14783 14783 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27073 male "" "" Unknown "" 27073 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14784 14784 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27075 male "" "" Unknown "" 27075 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14784 14784 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27075 male "" "" Unknown "" 27075 Frontal face "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14784 14784 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27076 male "" "" Unknown "" 27076 Profile "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14784 14784 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27076 male "" "" Unknown "" 27076 Profile "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:1200692 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14784 14784 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27077 male "" "" Unknown "" 27077 Others "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2200840 MONDO:0010383 OMIM:300624 https://db.gestaltmatcher.org/patients/14784 14784 FRAGILE X SYNDROME https://db.gestaltmatcher.org/patients/image_27077 male "" "" Unknown "" 27077 Others "" 3325231 http://rdf.ncbi.nlm.nih.gov/pubmed/3325231 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15242 15242 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28247 female "" "" Unknown "" 28247 Frontal face "" 12446373 http://rdf.ncbi.nlm.nih.gov/pubmed/12446373 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15252 15252 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28268 female "" "" Unknown "" 28268 Frontal face "" 16948945 http://rdf.ncbi.nlm.nih.gov/pubmed/16948945 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15252 15252 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28269 female "" "" Unknown "" 28269 Frontal face "" 16948945 http://rdf.ncbi.nlm.nih.gov/pubmed/16948945 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15253 15253 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28270 female "" "" Unknown "" 28270 Frontal face "" 16948945 http://rdf.ncbi.nlm.nih.gov/pubmed/16948945 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15385 15385 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28522 male "" "" Caucasian "" 28522 Frontal face "" 32642357 http://rdf.ncbi.nlm.nih.gov/pubmed/32642357 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15385 15385 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28523 male "" "" Caucasian "" 28523 Others "" 32642357 http://rdf.ncbi.nlm.nih.gov/pubmed/32642357 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15398 15398 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28566 male "" "" European "" 28566 Frontal face "" 21977120 http://rdf.ncbi.nlm.nih.gov/pubmed/21977120 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15398 15398 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28567 male "" "" European "" 28567 Others "" 21977120 http://rdf.ncbi.nlm.nih.gov/pubmed/21977120 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15398 15398 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28568 male "" "" European "" 28568 Limbs "" 21977120 http://rdf.ncbi.nlm.nih.gov/pubmed/21977120 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15408 15408 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28581 male "" "" Unknown "" 28581 Frontal face "" 24640185 http://rdf.ncbi.nlm.nih.gov/pubmed/24640185 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15408 15408 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28582 male "" "" Unknown "" 28582 Others "" 24640185 http://rdf.ncbi.nlm.nih.gov/pubmed/24640185 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15408 15408 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28583 male "" "" Unknown "" 28583 Others "" 24640185 http://rdf.ncbi.nlm.nih.gov/pubmed/24640185 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15408 15408 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28584 male "" "" Unknown "" 28584 Others "" 24640185 http://rdf.ncbi.nlm.nih.gov/pubmed/24640185 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15408 15408 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28585 male "" "" Unknown "" 28585 Others "" 24640185 http://rdf.ncbi.nlm.nih.gov/pubmed/24640185 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15408 15408 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28586 male "" "" Unknown "" 28586 Others "" 24640185 http://rdf.ncbi.nlm.nih.gov/pubmed/24640185 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15408 15408 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28587 male "" "" Unknown "" 28587 Others "" 24640185 http://rdf.ncbi.nlm.nih.gov/pubmed/24640185 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15408 15408 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28588 male "" "" Unknown "" 28588 Others "" 24640185 http://rdf.ncbi.nlm.nih.gov/pubmed/24640185 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15408 15408 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28589 male "" "" Unknown "" 28589 Others "" 24640185 http://rdf.ncbi.nlm.nih.gov/pubmed/24640185 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15410 15410 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28605 male "" "" Unknown "" 28605 Frontal face "" 35449785 http://rdf.ncbi.nlm.nih.gov/pubmed/35449785 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15410 15410 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28606 male "" "" Unknown "" 28606 Profile "" 35449785 http://rdf.ncbi.nlm.nih.gov/pubmed/35449785 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15412 15412 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28616 male "" "" Caucasian "" 28616 Frontal face "" 1785634 http://rdf.ncbi.nlm.nih.gov/pubmed/1785634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15412 15412 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28617 male "" "" Caucasian "" 28617 Others "" 1785634 http://rdf.ncbi.nlm.nih.gov/pubmed/1785634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15412 15412 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28618 male "" "" Caucasian "" 28618 Limbs "" 1785634 http://rdf.ncbi.nlm.nih.gov/pubmed/1785634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15412 15412 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28619 male "" "" Caucasian "" 28619 Limbs "" 1785634 http://rdf.ncbi.nlm.nih.gov/pubmed/1785634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15413 15413 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28620 male "" "" Caucasian "" 28620 Frontal face "" 1785634 http://rdf.ncbi.nlm.nih.gov/pubmed/1785634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15413 15413 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28621 male "" "" Caucasian "" 28621 Others "" 1785634 http://rdf.ncbi.nlm.nih.gov/pubmed/1785634 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15416 15416 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28625 male "" "" Unknown "" 28625 Frontal face "" 6782211 http://rdf.ncbi.nlm.nih.gov/pubmed/6782211 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15416 15416 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28626 male "" "" Unknown "" 28626 Profile "" 6782211 http://rdf.ncbi.nlm.nih.gov/pubmed/6782211 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15417 15417 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28627 female "" "" Unknown "" 28627 Profile "" 2260606 http://rdf.ncbi.nlm.nih.gov/pubmed/2260606 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15417 15417 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28628 female "" "" Unknown "" 28628 Frontal face "" 2260606 http://rdf.ncbi.nlm.nih.gov/pubmed/2260606 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15433 15433 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28672 female "" "" Caucasian "" 28672 Frontal face "" 1999833 http://rdf.ncbi.nlm.nih.gov/pubmed/1999833 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15460 15460 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28734 female "" "" Unknown "" 28734 Frontal face "" 18489660 http://rdf.ncbi.nlm.nih.gov/pubmed/18489660 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15460 15460 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28735 female "" "" Unknown "" 28735 Others "" 18489660 http://rdf.ncbi.nlm.nih.gov/pubmed/18489660 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15460 15460 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28736 female "" "" Unknown "" 28736 Others "" 18489660 http://rdf.ncbi.nlm.nih.gov/pubmed/18489660 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15471 15471 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28749 female "" "" Unknown "" 28749 Frontal face "" 25040471 http://rdf.ncbi.nlm.nih.gov/pubmed/25040471 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15471 15471 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28749 female "" "" Unknown "" 28749 Frontal face "" 25040471 http://rdf.ncbi.nlm.nih.gov/pubmed/25040471 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15472 15472 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28750 male "" "" Unknown "" 28750 Frontal face "" 25040471 http://rdf.ncbi.nlm.nih.gov/pubmed/25040471 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15472 15472 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28750 male "" "" Unknown "" 28750 Frontal face "" 25040471 http://rdf.ncbi.nlm.nih.gov/pubmed/25040471 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15474 15474 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28753 female "" "" Unknown "" 28753 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15474 15474 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28753 female "" "" Unknown "" 28753 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15474 15474 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28754 female "" "" Unknown "" 28754 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15474 15474 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28754 female "" "" Unknown "" 28754 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15475 15475 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28755 male "" "" Unknown "" 28755 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15475 15475 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28755 male "" "" Unknown "" 28755 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15475 15475 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28756 male "" "" Unknown "" 28756 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15475 15475 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28756 male "" "" Unknown "" 28756 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15476 15476 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28757 male "" "" Unknown "" 28757 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15476 15476 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28757 male "" "" Unknown "" 28757 Frontal face "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15476 15476 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28758 male "" "" Unknown "" 28758 Profile "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15476 15476 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28758 male "" "" Unknown "" 28758 Profile "" 29249681 http://rdf.ncbi.nlm.nih.gov/pubmed/29249681 "" "" "" NANDO:1200331 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15479 15479 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28767 male "" "" Unknown "" 28767 Frontal face "" 21827897 http://rdf.ncbi.nlm.nih.gov/pubmed/21827897 "" "" "" NANDO:2200705 MONDO:0008840 OMIM:208900 https://db.gestaltmatcher.org/patients/15479 15479 ATAXIA-TELANGIECTASIA https://db.gestaltmatcher.org/patients/image_28767 male "" "" Unknown "" 28767 Frontal face "" 21827897 http://rdf.ncbi.nlm.nih.gov/pubmed/21827897 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15481 15481 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28770 female "" "" Unknown "" 28770 Frontal face "" 16354227 http://rdf.ncbi.nlm.nih.gov/pubmed/16354227 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15481 15481 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28771 female "" "" Unknown "" 28771 Profile "" 16354227 http://rdf.ncbi.nlm.nih.gov/pubmed/16354227 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15481 15481 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28772 female "" "" Unknown "" 28772 Limbs "" 16354227 http://rdf.ncbi.nlm.nih.gov/pubmed/16354227 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15481 15481 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28773 female "" "" Unknown "" 28773 Limbs "" 16354227 http://rdf.ncbi.nlm.nih.gov/pubmed/16354227 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15482 15482 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28774 male "" "" Unknown "" 28774 Frontal face "" 12907281 http://rdf.ncbi.nlm.nih.gov/pubmed/12907281 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15482 15482 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28775 male "" "" Unknown "" 28775 MRI "" 12907281 http://rdf.ncbi.nlm.nih.gov/pubmed/12907281 "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15482 15482 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28776 male "" "" Unknown "" 28776 Medical information "" 12907281 http://rdf.ncbi.nlm.nih.gov/pubmed/12907281 "" "" "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/14864 14864 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_27371 male "" "" Unknown "" 27371 Frontal face "" "" "" "" "" "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/14864 14864 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_27371 male "" "" Unknown "" 27371 Frontal face "" "" "" "" "" "" NANDO:1200683 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/14864 14864 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_27372 male "" "" Unknown "" 27372 Profile "" "" "" "" "" "" NANDO:2200962 MONDO:0008684 OMIM:194190 https://db.gestaltmatcher.org/patients/14864 14864 WOLF-HIRSCHHORN SYNDROME https://db.gestaltmatcher.org/patients/image_27372 male "" "" Unknown "" 27372 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14976 14976 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27637 male "" "" European - Northwestern "" 27637 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14976 14976 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27637 male "" "" European - Northwestern "" 27637 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14976 14976 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27638 male "" "" European - Northwestern "" 27638 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14976 14976 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27638 male "" "" European - Northwestern "" 27638 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14976 14976 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27639 male "" "" European - Northwestern "" 27639 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14976 14976 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27639 male "" "" European - Northwestern "" 27639 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14977 14977 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27635 female "" "" European - Northwestern "" 27635 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14977 14977 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27635 female "" "" European - Northwestern "" 27635 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14977 14977 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27636 female "" "" European - Northwestern "" 27636 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14977 14977 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27636 female "" "" European - Northwestern "" 27636 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14977 14977 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27640 female "" "" European - Northwestern "" 27640 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14977 14977 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27640 female "" "" European - Northwestern "" 27640 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27642 unknown "" "" European - Northwestern "" 27642 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27642 unknown "" "" European - Northwestern "" 27642 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27643 unknown "" "" European - Northwestern "" 27643 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27643 unknown "" "" European - Northwestern "" 27643 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27644 unknown "" "" European - Northwestern "" 27644 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27644 unknown "" "" European - Northwestern "" 27644 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27645 unknown "" "" European - Northwestern "" 27645 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27645 unknown "" "" European - Northwestern "" 27645 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27646 unknown "" "" European - Northwestern "" 27646 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14979 14979 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27646 unknown "" "" European - Northwestern "" 27646 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14980 14980 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27647 female "" "" European - Northwestern "" 27647 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14980 14980 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27647 female "" "" European - Northwestern "" 27647 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14980 14980 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27648 female "" "" European - Northwestern "" 27648 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/14980 14980 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27648 female "" "" European - Northwestern "" 27648 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15105 15105 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27841 female "" "" European - Northwestern "" 27841 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15105 15105 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27841 female "" "" European - Northwestern "" 27841 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15105 15105 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27842 female "" "" European - Northwestern "" 27842 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15105 15105 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27842 female "" "" European - Northwestern "" 27842 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15105 15105 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27843 female "" "" European - Northwestern "" 27843 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15105 15105 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27843 female "" "" European - Northwestern "" 27843 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15106 15106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27848 male "" "" European - Northwestern "" 27848 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15106 15106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27848 male "" "" European - Northwestern "" 27848 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15106 15106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27849 male "" "" European - Northwestern "" 27849 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15106 15106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27849 male "" "" European - Northwestern "" 27849 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15106 15106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27851 male "" "" European - Northwestern "" 27851 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15106 15106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27851 male "" "" European - Northwestern "" 27851 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15106 15106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27852 male "" "" European - Northwestern "" 27852 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15106 15106 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27852 male "" "" European - Northwestern "" 27852 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28794 female "" "" European - Northwestern "" 28794 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28794 female "" "" European - Northwestern "" 28794 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27853 female "" "" European - Northwestern "" 27853 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27853 female "" "" European - Northwestern "" 27853 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27854 female "" "" European - Northwestern "" 27854 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27854 female "" "" European - Northwestern "" 27854 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27855 female "" "" European - Northwestern "" 27855 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27855 female "" "" European - Northwestern "" 27855 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27856 female "" "" European - Northwestern "" 27856 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15108 15108 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27856 female "" "" European - Northwestern "" 27856 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27857 male "" "" European - Northwestern "" 27857 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27857 male "" "" European - Northwestern "" 27857 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27858 male "" "" European - Northwestern "" 27858 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27858 male "" "" European - Northwestern "" 27858 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27859 male "" "" European - Northwestern "" 27859 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27859 male "" "" European - Northwestern "" 27859 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27860 male "" "" European - Northwestern "" 27860 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27860 male "" "" European - Northwestern "" 27860 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27861 male "" "" European - Northwestern "" 27861 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27861 male "" "" European - Northwestern "" 27861 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27862 male "" "" European - Northwestern "" 27862 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27862 male "" "" European - Northwestern "" 27862 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27863 male "" "" European - Northwestern "" 27863 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27863 male "" "" European - Northwestern "" 27863 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27864 male "" "" European - Northwestern "" 27864 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27864 male "" "" European - Northwestern "" 27864 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27865 male "" "" European - Northwestern "" 27865 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27865 male "" "" European - Northwestern "" 27865 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27866 male "" "" European - Northwestern "" 27866 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15109 15109 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_27866 male "" "" European - Northwestern "" 27866 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28423 female "" "" European - Northwestern "" 28423 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28423 female "" "" European - Northwestern "" 28423 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28424 female "" "" European - Northwestern "" 28424 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28424 female "" "" European - Northwestern "" 28424 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28425 female "" "" European - Northwestern "" 28425 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28425 female "" "" European - Northwestern "" 28425 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28426 female "" "" European - Northwestern "" 28426 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28426 female "" "" European - Northwestern "" 28426 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28817 female "" "" European - Northwestern "" 28817 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15332 15332 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28817 female "" "" European - Northwestern "" 28817 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15334 15334 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28429 female "" "" European - Northwestern "" 28429 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15334 15334 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28429 female "" "" European - Northwestern "" 28429 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15334 15334 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28430 female "" "" European - Northwestern "" 28430 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15334 15334 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28430 female "" "" European - Northwestern "" 28430 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15334 15334 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28431 female "" "" European - Northwestern "" 28431 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15334 15334 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28431 female "" "" European - Northwestern "" 28431 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15449 15449 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28719 female "" "" European "" 28719 Frontal face "" "" "" "" "" "" NANDO:2201418 MONDO:0008999 OMIM:216550 https://db.gestaltmatcher.org/patients/15449 15449 COHEN SYNDROME https://db.gestaltmatcher.org/patients/image_28743 female "" "" European "" 28743 Frontal face "" "" "" "" "" "" NANDO:1200431 MONDO:0019200 OMIM:268000 https://db.gestaltmatcher.org/patients/15449 15449 Retinitis pigmentosa https://db.gestaltmatcher.org/patients/image_28719 female "" "" European "" 28719 Frontal face "" "" "" "" "" "" NANDO:1200431 MONDO:0019200 OMIM:268000 https://db.gestaltmatcher.org/patients/15449 15449 Retinitis pigmentosa https://db.gestaltmatcher.org/patients/image_28743 female "" "" European "" 28743 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15451 15451 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28720 female "" "" European - Northwestern "" 28720 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15451 15451 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28720 female "" "" European - Northwestern "" 28720 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15451 15451 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28721 female "" "" European - Northwestern "" 28721 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15451 15451 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28721 female "" "" European - Northwestern "" 28721 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15451 15451 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28722 female "" "" European - Northwestern "" 28722 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15451 15451 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28722 female "" "" European - Northwestern "" 28722 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28789 male "" "" European - Northwestern "" 28789 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28789 male "" "" European - Northwestern "" 28789 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28790 male "" "" European - Northwestern "" 28790 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28790 male "" "" European - Northwestern "" 28790 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28791 male "" "" European - Northwestern "" 28791 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28791 male "" "" European - Northwestern "" 28791 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28792 male "" "" European - Northwestern "" 28792 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28792 male "" "" European - Northwestern "" 28792 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28793 male "" "" European - Northwestern "" 28793 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15493 15493 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_28793 male "" "" European - Northwestern "" 28793 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15782 15782 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29556 female "" "" European - Northwestern "" 29556 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15782 15782 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29556 female "" "" European - Northwestern "" 29556 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15782 15782 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29557 female "" "" European - Northwestern "" 29557 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15782 15782 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29557 female "" "" European - Northwestern "" 29557 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15782 15782 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29558 female "" "" European - Northwestern "" 29558 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15782 15782 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29558 female "" "" European - Northwestern "" 29558 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15783 15783 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29559 male "" "" European - Northwestern "" 29559 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15783 15783 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29559 male "" "" European - Northwestern "" 29559 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15783 15783 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29560 male "" "" European - Northwestern "" 29560 Profile "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15783 15783 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29560 male "" "" European - Northwestern "" 29560 Profile "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15783 15783 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29561 male "" "" European - Northwestern "" 29561 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15783 15783 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29561 male "" "" European - Northwestern "" 29561 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15783 15783 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29562 male "" "" European - Northwestern "" 29562 Frontal face "" "" "" "" "" "" NANDO:2200286 MONDO:0008678 OMIM:194050 https://db.gestaltmatcher.org/patients/15783 15783 WILLIAMS-BEUREN SYNDROME https://db.gestaltmatcher.org/patients/image_29562 male "" "" European - Northwestern "" 29562 Frontal face "" "" "" "" "" "" NANDO:1200664 MONDO:0008678 OMIM:194050 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https://db.gestaltmatcher.org/patients/14833 14833 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_27266 male "" "" "" "" 27266 Profile "" "" "" "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/14833 14833 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_27265 male "" "" "" "" 27265 Frontal face "" "" "" "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/14834 14834 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_27270 male "" "" "" "" 27270 Frontal face "" "" "" "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/14834 14834 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_27268 male "" "" "" "" 27268 Frontal face "" "" "" "" "" "" NANDO:2200965 MONDO:0008608 OMIM:190685 https://db.gestaltmatcher.org/patients/14834 14834 DOWN SYNDROME https://db.gestaltmatcher.org/patients/image_27272 male "" "" "" "" 27272 Profile "" "" "" "" "" "" 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