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ID DOID:0070374
Name leukoencephalopathy with vanishing white matter 1
Definition A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.
https://pubmed.ncbi.nlm.nih.gov/34745209/, https://www.omim.org/entry/603896
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MIM:603896

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is_a leukoencephalopathy with vanishing white matter

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