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Metadata
ID DOID:0050754
Name ataxia with oculomotor apraxia type 1
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

OMIM:208920

Subsets

DO_rare_slim

Parent Relationships

is_a autosomal recessive cerebellar ataxia

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