Term Name: | spinocerebellar ataxia type 28 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050977] ( DOID:0050977 ) |