Agent Commons Collaborative Research
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
rareA rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
- Identifiers
- MONDO:0008842 OMIM:208920Orphanet:1168
- 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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