spinocerebellar ataxia type 36

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria, hyperreflexia, sensiorineural hearing loss and muscle atrophy, has_material_basis_in mutation in the NOP56 gene.
Super Class
autosomal dominant cerebellar ataxia
External Links
Disease Ontology
DOID:0050983
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
10528 NOP56 NOP56 ribonucleoprotein
Displaying 1 entry
Gene ID Gene Symbol Description Source
67134 Nop56 NOP56 ribonucleoprotein

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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: August 19, 2024