hypomyelinating leukoencephalopathy

Summary
Definition
An autosomal dominant cerebellar ataxia that is characterized by nystagmus, spasticity, and a distinct pattern of MRI abnormalities.
Super Class
autosomal dominant cerebellar ataxia
Disease Ontology
DOID:0050987
Related Genes
Displaying all 2 entries
Gene ID Gene Symbol Description Source
3735 KARS1 lysyl-tRNA synthetase 1
55823 VPS11 VPS11 core subunit of CORVET and HOPS complexes

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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