Agent Commons Collaborative Research
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
rareCerebellar 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.
- Identifiers
- MONDO:0011038 OMIM:601338Orphanet:1171
- Part of
- ATP1A3-associated neurological disorderAutosomal dominant cerebellar ataxia type IAutosomal dominant optic atrophy plus syndrome
- Also known as
- CAPOS · CAPOS syndrome · cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss · cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss · cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
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