spinocerebellar ataxia type 26

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia and oculomotor abnormalities, has_material_basis_in mutation in the EEF2 gene.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0050975
Mondo Disease Ontology
MeSH
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1938 EEF2 eukaryotic translation elongation factor 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
13629 Eef2 eukaryotic translation elongation factor 2
The Human Phenotype Ontology
Displaying entries 11 - 20 of 20 in total
HPO ID HPO Term
HP:0001260 Dysarthria
HP:0007240 Progressive gait ataxia
HP:0002070 Limb ataxia
HP:0001151 Impaired horizontal smooth pursuit
HP:0003470 Paralysis
HP:0003677 Slowly progressive
HP:0002311 Incoordination
HP:0000006 Autosomal dominant inheritance
HP:0003581 Adult onset
HP:0002066 Gait ataxia
Displaying 1 entry
Gene ID Gene Symbol Description
1938 EEF2 eukaryotic translation elongation factor 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