spinocerebellar ataxia type 2

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by ataxia, bulbar palsy, peripheral neuropathy chorea and muscle atrophy, has_material_basis_in mutation in the ATXN2 gene.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0050955
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6311 ATXN2 ataxin 2
11273 ATXN2L ataxin 2 like
Displaying all 2 entries
Gene ID Gene Symbol Description Source
20239 Atxn2 ataxin 2
233871 Atxn2l ataxin 2-like
Displaying 1 entry
Gene ID Gene Symbol Description Source
41883 Atx2 Ataxin-2

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


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Last updated: December 9, 2024