"leukoencephalopathy with swelling and cysts"@en . "UMLS_CUI:C1858854" . "disease_ontology"^^ . "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."^^ . _:vb50940739 . "SNOMEDCT_US_2021_07_31:703536004"^^ . _:vb50940739 . . _:vb50940739 . _:vb50940739 . "DOID:0080316"^^ . "megalencephalic leukoencephalopathy with subcortical cysts 1"@en . "OMIM:604004"^^ . . "Van Der Knaap disease"@en . _:vb50940739 . . "MESH:C536141"^^ . .