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Metadata
ID DOID:0050954
Name spinocerebellar ataxia type 1
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.
https://rarediseases.info.nih.gov/diseases/4071/spinocerebellar-ataxia-1
Xrefs

GARD:4071

OMIM:164400

Parent Relationships

is_a autosomal dominant cerebellar ataxia

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