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Cerebellar ataxia, Cayman type

Disease definition

A rare, autosomal recessive, congenital, cerebellar ataxia disorder characterized by hypotonia from birth, marked psychomotor delay and prominent cerebellar dysfunction (manifesting with nystagmus, intention tremor, dysarthria, ataxic gait and truncal ataxia), described in an isolated population of the Grand Cayman Island. Cerebellar hypoplasia, observed on CT scan, may be associated.

ORPHA:94122

Classification level: Disorder
  • Synonym(s):
    • Cayman ataxia
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: -
  • ICD-10: G11.0
  • OMIM: 601238
  • UMLS: C1832585
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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