| Metadata | |
|---|---|
| ID | DOID:0050963 |
| PURL | http://purl.obolibrary.org/obo/DOID_0050963 Copy |
| Name | spinocerebellar ataxia 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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