Search Ontology:
Human Disease
spinocerebellar ataxia type 29
- Term ID
- DOID:0050978
- Synonyms
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- Definition
- An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene. https://rarediseases.info.nih.gov/diseases/10480/spinocerebellar-ataxia-29
- References
- Ontology
- Human Disease ( DOID:0050978 )
- is a type of
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Genes Involved
Zebrafish Models