Human genes for megalencephalic leukoencephalopathy with subcortical cysts
Megalencephalic leukoencephalopathy with subcortical cysts [DOID:0080315]
A leukodystorphy characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worse with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline.
Synonyms: megalencephalic leukoencephalopathy with subcortical cysts, DOID:0080315, megalencephalic leukoencephalopathy with subcortical cystses, megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome, vacuolating megalencephalic leukoencephalopathy with subcortical cysts ...