Term Name:	megalencephalic leukoencephalopathy with subcortical cysts 1
Synonyms:	leukoencephalopathy with swelling and cysts, vacuolating megalencephalic leukoencephalopathy with subcortical cysts, Van Der Knaap disease
Definition:	A megalencephalic leukoencephalopathy with subcortical cysts characterized by early-onset macrocephaly and delayed-onset neurologic deterioration, including cerebellar ataxia, spasticity, epilepsy, and mild cognitive decline, that has_material_basis_in homozygous or compound heterozygous mutation in the MLC1 gene on chromosome 22q13.
Ontology:	Human Disease [DOID:0080316]   ( DOID:0080316 )