DISEASES

Disease-gene associations mined from literature

Human genes for megalencephalic leukoencephalopathy with subcortical cysts 2B

Megalencephalic leukoencephalopathy with subcortical cysts 2B [DOID:0080317]

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 HEPACAM on chromosome 11q24.

Synonyms:  megalencephalic leukoencephalopathy with subcortical cysts 2B,  DOID:0080317,  megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation,  megalencephalic leukoencephalopathy with subcortical cysts 2B remitting with or without mental retardation,  with or without mental retardation megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting ...