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spinocerebellar ataxia type 28
Summary
- 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.
- Super Class
- autosomal dominant cerebellar ataxia
External Links
- Disease Ontology
- DOID:0050977
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
