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Human Disease
spinocerebellar ataxia type 28
- Term ID
- DOID:0050977
- Synonyms
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- Definition
- An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, ophthalmoparesis, nystagmus and ptosis, and has_material_basis_in mutation in the AFG3L2 gene. https://rarediseases.info.nih.gov/diseases/9951/spinocerebellar-ataxia-28
- References
- Ontology
- Human Disease ( DOID:0050977 )
- is a type of
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