"UMLS_CUI:C1858854"^^ . "MESH:C536141"^^ . "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."^^ . "SNOMEDCT_US_2021_09_01:703536004"^^ . "megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome"@en . "disease_ontology"^^ . "megalencephalic leukoencephalopathy with subcortical cysts"@en . "vacuolating megalencephalic leukoencephalopathy with subcortical cysts"@en . "DOID:0080315"^^ . "ORDO:2478"^^ . . . "OMIM:PS604004"^^ . . "GARD:3445"^^ .