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Metadata
ID	DOID:0050754
Name	early-onset ataxia with oculomotor apraxia and hypoalbuminemia
Definition	An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. https://rarediseases.info.nih.gov/diseases/9283/ataxia-oculomotor-apraxia-type-1
Xrefs	GARD:9283 MIM:208920
Subsets	DO_rare_slim
Synonyms	ataxia with oculomotor apraxia type 1 [EXACT]
Parent Relationships	is_a autosomal recessive cerebellar ataxia