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DO Term : megalencephalic leukoencephalopathy with subcortical cysts 2B [DOID:0080317] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24.
  • synonyms:
  • megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation,
  • OMIM:613926,
  • 613926
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