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Autosomal recessive ataxia due to ubiquinone deficiency

Disease definition

This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

ORPHA:139485

  • Synonym(s):
    • ARCA2
    • Autosomal recessive ataxia due to coenzyme Q10 deficiency
    • Autosomal recessive cerebellar ataxia type 2
    • Autosomal recessive spinocerebellar ataxia type 9
    • SCAR9
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: G11.1
  • OMIM: 612016
  • UMLS: C2677589
  • MeSH: -
  • GARD: 10294
  • MedDRA: -

Detailed information

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