Term Name: | ataxia with oculomotor apraxia type 1 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050754] ( DOID:0050754 ) |