Orphanet: Ataxia oculomotor apraxia type 1

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Ataxia-oculomotor apraxia type 1

Disease definition

A rare autosomal recessive cerebellar ataxia, characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.


Classification level: Disorder
  • Synonym(s):
    • AOA1
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.3
  • OMIM: 208920
  • UMLS: C1859598
  • MeSH: -
  • GARD: 9283
  • MedDRA: -

Detailed information


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