Brachydactyly-nystagmus-cerebellar ataxia syndrome

Orpha code: 1246OMIM code: 113400

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Biemond syndrome
Zespół Biemonda
ORPHA code
1246
OMIM code
113400
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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