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Metadata
ID DOID:0050963
Name spinocerebellar ataxia type 13
Definition An autosomal dominant cerebellar ataxia that is characterized by developmental delay, ataxia, myoclinic jerks, dysarthria, dysphagia and seizure, and has_material_basis_in mutation in the KCNC3 gene.
https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13
Xrefs

OMIM:605259

Parent Relationships

is_a autosomal dominant cerebellar ataxia

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