" /> Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss - CISMeF





Preferred Label : Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss;

Symbol : CAPOS;

CISMeF acronym : CAPOS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Capos syndrome;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the ATPase, Na /K transporting, alpha-3 polypeptide (ATP1A3, 182350.0014);

Prefixed ID : #601338;

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29/07/2025


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