autosomal dominant cerebellar ataxia, deafness and narcolepsy

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by ataxia, sensorineal deafness, narcolepsy with cataplexy, and dementia, has_material_basis_in mutation in the DNMT1 gene.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0050968
Mondo Disease Ontology
OMIM
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1786 DNMT1 DNA methyltransferase 1
Displaying 1 entry
Gene ID Gene Symbol Description Source
13433 Dnmt1 DNA methyltransferase 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