Metadata | |
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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 |
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