Term Name: | leukoencephalopathy with vanishing white matter 3 |
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Synonyms: | |
Definition: | A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B3 gene on chromosome 1p34. |
Ontology: | Human Disease [DOID:0070372] ( DOID:0070372 ) |