leukoencephalopathy with vanishing white matter 4

Summary
Definition
A leukoencephalopathy with vanishing white matter that has_material_basis_in compound heterozygous mutation in the EIF2B4 gene on chromosome 2p23.
Super Class
leukoencephalopathy with vanishing white matter
Disease Ontology
DOID:0070371
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8890 EIF2B4 eukaryotic translation initiation factor 2B subunit delta
Displaying 1 entry
Gene ID Gene Symbol Description Source
13667 Eif2b4 eukaryotic translation initiation factor 2B, subunit 4 delta
Displaying 1 entry
Gene ID Gene Symbol Description Source
852974 GCD2 translation initiation factor eIF2B subunit delta

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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