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

• MIM:605259

Ontology

Human Disease   ( DOID:0050963 )