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spinocerebellar ataxia type 13

Summary
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.
Super Class
autosomal dominant cerebellar ataxia
External Links
Disease Ontology
DOID:0050963
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3748 KCNC3 potassium voltage-gated channel subfamily C member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
16504 Kcnc3 potassium voltage gated channel, Shaw-related subfamily, member 3
Displaying 1 entry
Gene ID Gene Symbol Description Source
33599 Shaw Shaker cognate w
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GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024