ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia.
MONDO:0011457
ataxia-telangiectasia-like disorder
is_a
MONDO:0021190
DNA repair disease
is_a
AOA1
exact
APTX oculomotor apraxia or related oculomotor disease
exact
EAOH
related
EOCA-HA
related
ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
exact
early-onset ataxia with oculomotor apraxia and hypoalbuminemia
related
early-onset cerebellar ataxia with hypoalbuminemia
related
oculomotor apraxia or related oculomotor disease caused by mutation in APTX
exact
SPCC18.09c