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megalencephalic leukoencephalopathy with subcortical cysts

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic signs at presentation (such as mild motor delay), which worsen with time, leading to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0011391:  megalencephalic leukoencephalopathy with subcortical cysts
GARD:0003445: 
MESH:C536141: 
Orphanet:2478: 
SCTID:703536004: 
UMLS:CN176898: