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

Orpha code: 1171OMIM code: 601338

Definition

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.

Disease data
Classification

Disease

Synonyms
CAPOS syndrome
Zespół CAPOS
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome
ORPHA code
1171
OMIM code
601338
ICD10 code
G11.1
ICD11 code
-

No additional description.

Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl