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Human Disease

spinocerebellar ataxia type 13

Term ID
DOID:0050963
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. https://rarediseases.info.nih.gov/diseases/9611/spinocerebellar-ataxia-13
References
Ontology
Human Disease   ( DOID:0050963 )
Relationships
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Genes Involved
Zebrafish Models