Term Name: | leukoencephalopathy with vanishing white matter 5 |
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Synonyms: | |
Definition: | A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27. |
Ontology: | Human Disease [DOID:0070367] ( DOID:0070367 ) |