Term Name: | spinocerebellar ataxia type 5 |
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Synonyms: | |
Definition: | An autosomal dominant cerebellar ataxia that is characterized by the early-onset of cerebellar signs and eye movement abnormalities with a very slow disease progression, and has_material_basis_in mutation in the SPTBN2 gene. |
Ontology: | Human Disease [DOID:0050882] ( DOID:0050882 ) |