You are using an outdated browser. Please upgrade your browser to improve your experience.

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

Disease Summary
Associated Targets (1)
Tclin

1


GARD Rare
Mondo Description Cerebellar 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.
Uniprot Description An autosomal dominant neurologic disorder characterized by relapsing and partially remitting, early-onset cerebellar ataxia following a febrile illness. Other features include progressive optic atrophy and sensorineural hearing loss, generalized hypotonia, areflexia and pes cavus without evidence of a peripheral neuropathy on neurophysiological studies.
Mondo Term and Equivalent IDs
MONDO:0011038:  cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
GARD:0001188: 
MESH:C535351: 
Orphanet:1171: 
SCTID:720634003: