leukoencephalopathy with vanishing white matter 1

Summary
Definition
A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.
Super Class
leukoencephalopathy with vanishing white matter
Disease Ontology
DOID:0070374
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1967 EIF2B1 eukaryotic translation initiation factor 2B subunit alpha

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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