megalencephalic leukoencephalopathy with subcortical cysts 2B

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

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.

Signs and symptoms

• Megalencephaly
• Macrocephaly
• Motor delay
• Delayed speech and language development
• Diffuse swelling of cerebral white matter
• Diffuse white matter abnormalities
• Hypotonia
• Clumsiness
• Intellectual disability
• Absent speech

Also known as: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation