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
Definisjon
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.
Fra Orphanet
ORPHA: 1171
Klassifiseringsnivå: Disorder
ICD-10: G11.1
Mer informasjon
Deler av informasjonen over er hentet fra ORPHAdata med lisens: Commons Attribution 4.0 International (CC BY 4.0)
