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

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Name:
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Description:
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.
ORPHAcode:
1171
Synonyms:
CAPOS syndrome
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
XREF(s):
Orphanet
ICD-10
OMIM
Analyte(s):
ATP1A3
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14