megalencephalic leukoencephalopathy with subcortical cysts 2B (DOID:0080317)
Alliance: disease page
Synonyms: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Alt IDs: OMIM:613926
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.