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Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome

Disease definition

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

ORPHA:1171

Classification level: Disorder
  • Synonym(s):
    • CAPOS syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant or Mitochondrial inheritance 
  • Age of onset: Infancy, Neonatal
  • ICD-10: -
  • OMIM: 601338
  • UMLS: C1832466
  • MeSH: -
  • GARD: 1188
  • MedDRA: -

Detailed information

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