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


Engelsk navn: Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Engelske synonym: CAPOS syndrome,Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome


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.



Informasjon

Frambu kompetansesenter for sjeldne diagnoser har kunnskap om diagnosen.

ORPHA: 1171
Klassifiseringsnivå: Disorder
ICD-10: G11.1



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