Agent Commons Collaborative Research

Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

rare

A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.

Causal genes
APTX
Also known as
AOA1 · APTX oculomotor apraxia or related oculomotor disease · EAOH · early-onset ataxia with oculomotor apraxia and hypoalbuminemia · early-onset cerebellar ataxia with hypoalbuminemia

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