AMASTIA, BILATERAL, WITH URETERAL TRIPLICATION AND DYSMORPHISM
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(OMIM:104350)
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ATP-BINDING CASSETTE, SUBFAMILY D, MEMBER 3
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(OMIM:170995)
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Ataxia - photosensitivity - short stature
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(Orphanet:1184)
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CHST3-related skeletal dysplasia
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(Orphanet:263463)
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COLD-INDUCED SWEATING SYNDROME 2
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(OMIM:610313)
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CRANIOMETADIAPHYSEAL DYSPLASIA
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(OMIM:269300)
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Camptodactyly syndrome, Guadalajara type 1
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(Orphanet:1327)
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Cardiofaciocutaneous syndrome
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(Orphanet:1340)
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Cohen syndrome
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(Orphanet:193)
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Congenital muscular dystrophy - infantile cataract - hypogonadism
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(Orphanet:1875)
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Corpus callosum agenesis - double urinary collecting system
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(Orphanet:1492)
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Craniofaciofrontodigital syndrome
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(Orphanet:363705)
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Craniometadiaphyseal dysplasia, wormian bone type
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(Orphanet:85184)
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Ellis Van Creveld syndrome
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(Orphanet:289)
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Facial dysmorphism - shawl scrotum - joint laxity
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(Orphanet:1778)
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HUNTER-MACDONALD SYNDROME
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(OMIM:611962)
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Intellectual deficit, X-linked - cubitus valgus - dysmorphism
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(Orphanet:85280)
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Intellectual deficit, X-linked, Vitale type
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(Orphanet:85289)
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Isolated anterior cervical hypertrichosis
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(Orphanet:3387)
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LEOPARD SYNDROME 1
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(OMIM:151100)
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LEOPARD SYNDROME 2
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(OMIM:611554)
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Leri pleonosteosis
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(Orphanet:2900)
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Lipodystrophy - intellectual deficit - deafness
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(Orphanet:50811)
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MENTAL RETARDATION, X-LINKED 91
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(OMIM:300577)
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MULTIPLE SYNOSTOSES SYNDROME 1
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(OMIM:186500)
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MULTIPLE SYNOSTOSES SYNDROME 3
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(OMIM:612961)
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Marinesco-Sjögren syndrome
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(Orphanet:559)
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Mesomelic dysplasia, Kantaputra type
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(Orphanet:1836)
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Mikati-Najjar-Sahli syndrome
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(Orphanet:2558)
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Multiple synostoses syndrome
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(Orphanet:3237)
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NOONAN SYNDROME 1
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(OMIM:163950)
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NOONAN SYNDROME 4
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(OMIM:610733)
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Nail-patella syndrome
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(Orphanet:2614)
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Noonan syndrome
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(Orphanet:648)
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Noonan syndrome with multiple lentigines
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(Orphanet:500)
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Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
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(Orphanet:363972)
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OCULODENTODIGITAL DYSPLASIA
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(OMIM:164200)
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Oculodentodigital dysplasia
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(Orphanet:2710)
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Oculofaciocardiodental syndrome
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(Orphanet:2712)
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PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER)
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(OMIM:214100)
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PEROXISOME BIOGENESIS DISORDER 2A (ZELLWEGER)
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(OMIM:214110)
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PEROXISOME BIOGENESIS DISORDER 5A (ZELLWEGER)
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(OMIM:614866)
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Spinocerebellar ataxia - dysmorphism
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(Orphanet:1185)
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Spondyloepiphyseal dysplasia, Cantu type
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(Orphanet:163654)
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TARSAL-CARPAL COALITION SYNDROME
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(OMIM:186570)
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Turner syndrome
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(Orphanet:881)
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W syndrome
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(Orphanet:2804)
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Zellweger syndrome
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(Orphanet:912)
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[DEL] NEUROFIBROMATOSIS-NOONAN SYNDROME
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(OMIM:601321)
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