15q24 microdeletion syndrome
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(Orphanet:94065)
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Acro-renal-ocular syndrome
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(Orphanet:959)
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Acromesomelic dysplasia, Hunter-Thomson type
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(Orphanet:968)
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Acropectorovertebral dysplasia
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(Orphanet:957)
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Ballard syndrome
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(Orphanet:93395)
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Blackfan-Diamond anemia
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(Orphanet:124)
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Brachydactyly - preaxial hallux varus
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(Orphanet:1278)
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Branchio-oculo-facial syndrome
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(Orphanet:1297)
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CHARGE syndrome
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(Orphanet:138)
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Congenital absence/hypoplasia of fingers excluding thumb
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(Orphanet:294990)
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DIAMOND-BLACKFAN ANEMIA 1
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(OMIM:105650)
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FANCONI ANEMIA, COMPLEMENTATION GROUP A
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(OMIM:227650)
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FANCONI ANEMIA, COMPLEMENTATION GROUP C
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(OMIM:227645)
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FANCONI ANEMIA, COMPLEMENTATION GROUP D2
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(OMIM:227646)
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FANCONI ANEMIA, COMPLEMENTATION GROUP E
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(OMIM:600901)
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FANCONI ANEMIA, COMPLEMENTATION GROUP J
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(OMIM:609054)
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FANCONI ANEMIA, COMPLEMENTATION GROUP N
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(OMIM:610832)
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FANCONI ANEMIA, COMPLEMENTATION GROUP O
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(OMIM:613390)
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FANCONI ANEMIA, COMPLEMENTATION GROUP P
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(OMIM:613951)
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FEINGOLD SYNDROME 2
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(OMIM:614326)
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Fanconi anemia
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(Orphanet:84)
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Fibrodysplasia ossificans progressiva
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(Orphanet:337)
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Fryns syndrome
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(Orphanet:2059)
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Hand-foot-genital syndrome
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(Orphanet:2438)
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Hirschsprung disease - type D brachydactyly
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(Orphanet:2150)
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IVIC syndrome
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(Orphanet:2307)
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Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
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(Orphanet:319462)
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Kapur-Toriello syndrome
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(Orphanet:2328)
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Keutel syndrome
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(Orphanet:85202)
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Leri pleonosteosis
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(Orphanet:2900)
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Lethal faciocardiomelic dysplasia
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(Orphanet:1972)
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OPTIC ATROPHY, HEARING LOSS, AND PERIPHERAL NEUROPATHY, AUTOSOMALRECESSIVE
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(OMIM:258650)
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Okihiro syndrome
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(Orphanet:93293)
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Otopalatodigital syndrome
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(Orphanet:669)
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Postaxial acrofacial dysostosis
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(Orphanet:246)
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Pseudoaminopterin syndrome
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(Orphanet:221120)
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Radial ray hypoplasia - choanal atresia
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(Orphanet:3026)
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Richieri Costa-Pereira syndrome
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(Orphanet:3102)
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Rothmund-Thomson syndrome
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(Orphanet:2909)
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SC PHOCOMELIA SYNDROME
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(OMIM:269000)
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Smith-Lemli-Opitz syndrome
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(Orphanet:818)
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Spondyloperipheral dysplasia - short ulna
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(Orphanet:1856)
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Symphalangism with multiple anomalies of hands and feet
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(Orphanet:3246)
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Syndactyly - camptodactyly and clinodactyly of fifth fingers - bifid toes
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(Orphanet:357332)
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Thumb deformity - alopecia - pigmentation anomaly
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(Orphanet:2251)
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Upper limb defect - eye and ear abnormalities
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(Orphanet:2489)
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VACTERL/VATER association
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(Orphanet:887)
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Velo-facial-skeletal syndrome
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(Orphanet:3424)
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WT limb-blood syndrome
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(Orphanet:3466)
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Wolf-Hirschhorn syndrome
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(Orphanet:280)
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