Term Name: | spinocerebellar ataxia type 13 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0050963] ( DOID:0050963 ) |