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spinocerebellar ataxia type 29

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, intellectual disability, dysarthria and ophthalmoplegia, and has_material_basis_in mutation in the ITPR1 gene.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0050978
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3708 ITPR1 inositol 1,4,5-trisphosphate receptor type 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
16438 Itpr1 inositol 1,4,5-trisphosphate receptor 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
25262 Itpr1 inositol 1,4,5-trisphosphate receptor, type 1
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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