Brachydactyly-nystagmus-cerebellar ataxia syndrome

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Brachydactyly-nystagmus-cerebellar ataxia syndrome

Synonyms: Biemond syndrome

A rare multiple congenital anomalies/dysmorphic syndrome characterized by brachydactyly nystagmus and cerebellar ataxia. Intellectual deficit and strabismus have also been reported. There have been no further descriptions in the literature since 1934.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024

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