Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a (MLC2A)

Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a, also known as mlc2a, is related to megalencephalic leukoencephalopathy with subcortical cysts 2b, remitting, with or without impaired intellectual development and achilles bursitis, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Megalencephalic Leukoencephalopathy with Subcortical Cysts 2a is HEPACAM (Hepatic And Glial Cell Adhesion Molecule), and among its related pathways/superpathways are Development Slit-Robo signaling and Sudden infant death syndrome (SIDS) susceptibility pathways. Affiliated tissues include cerebellum and brain, and related phenotypes are macrocephaly and mental deterioration