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Human Disease

ataxia with oculomotor apraxia type 3

Term ID
DOID:0060557
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. https://ghr.nlm.nih.gov/condition/ataxia-with-oculomotor-apraxia
References
Ontology
Human Disease   ( DOID:0060557 )
Relationships
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Genes Involved
Zebrafish Models