Term Name:	megalencephalic leukoencephalopathy with subcortical cysts 2B
Synonyms:	megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
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.
Ontology:	Human Disease [DOID:0080317]   ( DOID:0080317 )