17q12 microduplication syndrome
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(Orphanet:261272)
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1q21.1 microdeletion syndrome
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(Orphanet:250989)
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Acro-fronto-facio-nasal dysostosis
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(Orphanet:1784)
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Acropectorovertebral dysplasia
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(Orphanet:957)
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Autosomal dominant Robinow syndrome
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(Orphanet:3107)
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Autosomal dominant microcephaly
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(Orphanet:2514)
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Autosomal recessive Robinow syndrome
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(Orphanet:1507)
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Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
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(Orphanet:331176)
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BRACHYPHALANGY, POLYDACTYLY, AND TIBIAL APLASIA/HYPOPLASIA
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(OMIM:609945)
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Ballard syndrome
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(Orphanet:93395)
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Brachydactyly type B
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(Orphanet:93383)
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CARPENTER SYNDROME 2
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(OMIM:614976)
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DESBUQUOIS DYSPLASIA 2
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(OMIM:615777)
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Greig cephalopolysyndactyly syndrome
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(Orphanet:380)
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Hypertelorism - hypospadias - polysyndactyly syndrome
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(Orphanet:2211)
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Keipert syndrome
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(Orphanet:2662)
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LUJAN-FRYNS SYNDROME
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(OMIM:309520)
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Leri pleonosteosis
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(Orphanet:2900)
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MENTAL RETARDATION, X-LINKED 99
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(OMIM:300919)
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Multiple sulfatase deficiency
|
(Orphanet:585)
|
OPITZ-KAVEGGIA SYNDROME
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(OMIM:305450)
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Otopalatodigital syndrome
|
(Orphanet:669)
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PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM
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(OMIM:614501)
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Paraplegia - brachydactyly - cone-shaped epiphysis
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(Orphanet:2823)
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Pfeiffer syndrome
|
(Orphanet:710)
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Postaxial polydactyly type A
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(Orphanet:93334)
|
ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2
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(OMIM:616331)
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Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
|
(Orphanet:353281)
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Rubinstein-Taybi syndrome due to CREBBP mutations
|
(Orphanet:353277)
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Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
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(Orphanet:353284)
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Sakati-Nyhan syndrome
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(Orphanet:3128)
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Simpson-Golabi-Behmel syndrome
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(Orphanet:373)
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Spondyloepimetaphyseal dysplasia, aggrecan type
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(Orphanet:171866)
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Spondyloperipheral dysplasia - short ulna
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(Orphanet:1856)
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Stapes ankylosis with broad thumbs and toes
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(Orphanet:140917)
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TEMPLE-BARAITSER SYNDROME
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(OMIM:611816)
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Thrombocytopenia - absent radius
|
(Orphanet:3320)
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Townes-Brocks syndrome
|
(Orphanet:857)
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Weaver syndrome
|
(Orphanet:3447)
|