_:vb50940740 . _:vb50940740 . _:vb50940740 . _:vb50940740 "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 MLC1 on chromosome 22q13."^^ . _:vb50940740 . _:vb50940740 . _:vb50940740 "url:https://www.ncbi.nlm.nih.gov/pubmed/21419380"^^ .