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Brachydactyly-nystagmus-cerebellar ataxia syndrome

Disease 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.

ORPHA:1246

Classification level: Disorder
  • Synonym(s):
    • Biemond syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Unknown 
  • Age of onset: Infancy
  • ICD-10: Q87.8
  • OMIM: 113400
  • UMLS: C1862099
  • MeSH: -
  • GARD: 971
  • MedDRA: -

Additional information

Further information on this disease

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