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GENATLAS PHENOTYPE

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

Remark(s)