Term Name: | ataxia with oculomotor apraxia type 3 |
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Synonyms: | ataxia-oculomotor apraxia 3 |
Definition: | An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. |
Ontology: | Human Disease [DOID:0060557] ( DOID:0060557 ) |