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leukoencephalopathy with vanishing white matter 5
Summary
- Synonym
-
- Cree leukoencephalopathy
- Definition
- A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B5 gene on chromosome 3q27.
- Super Class
- leukoencephalopathy with vanishing white matter
External Links
- Disease Ontology
- DOID:0070367
- Mondo Disease Ontology
- ORDO
- OMIM
