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Summary Literature (0)
DOID:0080317 - megalencephalic leukoencephalopathy with subcortical cysts 2B

Disease Ontology Definition: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,

Xenbase Genes : hepacam

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013491 - megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without intellectual disability


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant disease (is_a), megalencephalic leukoencephalopathy with subcortical cysts (is_a)