Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Definition
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
Also known as AOA1, APTX oculomotor apraxia or related oculomotor disease, ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, oculomotor apraxia or related oculomotor disease caused by mutation in APTX — per MONDO