Metadata | |
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ID | DOID:0050977 |
Name | spinocerebellar ataxia type 28 |
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 |
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