Home Page
References OMIM Gene GeneReviews HGMD HGNC
last update : 05-10-2016
Symbol CAPOS
Location 19q13.2
Name cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) syndrome
Corresponding gene ATP1A3
Main clinical features
  • neurologic disorder characterized by early-childhood onset of recurrent episodes of acute ataxic encephalopathy associated with febrile illnesses that tend to decrease with time, but the neurologic sequelae are permanent and progressive, resulting in gait and limb ataxia and areflexia
  • affected individuals also develop progressive visual impairment due to optic atrophy and sensorineural hearing loss beginning in childhood
  • Genetic determination autosomal dominant
    Function/system disorder neurology
    Type disease