spinocerebellar ataxia type 7

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by ataxia, progressive vision loss, and failure to thrive, has_material_basis_in mutation in the ATXN7 gene.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0050958
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
6314 ATXN7 ataxin 7
222255 ATXN7L1 ataxin 7 like 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
246103 Atxn7 ataxin 7

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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