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DO Term : leukoencephalopathy with vanishing white matter 1 [DOID:0070374] Disease Ontology
Namespace  disease_ontology Obsolete  false
description  A leukoencephalopathy with vanishing white matter that has_material_basis_in homozygous or compound heterozygous mutation in the EIF2B1 gene on chromosome 12q24.
  • synonyms:
  • OMIM:603896,
  • 603896
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