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Brachydactyly-nystagmus-cerebellar ataxia syndrome

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Brachydactyly-nystagmus-cerebellar ataxia syndrome is characterized by brachydactyly, nystagmus and cerebellar ataxia. Intellectual deficit and strabismus are also reported in some patients.

Identifiers
MONDO:0007226 OMIM:113400Orphanet:1246
Part of
Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
Also known as
Biemond syndrome · Biemond syndrome type 1 · brachydactyly - nystagmus - cerebellar ataxia · brachydactyly, nystagmus and cerebellar ataxia

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