Term Name: | spinocerebellar ataxia type 1 |
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Synonyms: | |
Definition: | An autosomal dominant cerebellar ataxia that is characterized by ataxia, dysarthria, dysphagia, dystonia and peripheral neuropathy that begins in early adulthood, has_material_basis_in the expanded (CAG)n trinucleotide repeat of ataxin-1 gene on chromosome 6p22. |
Ontology: | Human Disease [DOID:0050954] ( DOID:0050954 ) |