Metadata | |
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ID | DOID:0060557 |
Name | ataxia with oculomotor apraxia type 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. https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia |
Xrefs | |
Synonyms |
ataxia-oculomotor apraxia 3 [EXACT] |
Parent Relationships |