megalencephalic leukoencephalopathy with subcortical cysts Gene Set

Dataset OMIM Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a form of leukodystrophy that is characterized by infantile-onset macrocephaly, often with mild neurologic symptoms at presentation (such as mild motor delay), which worsen over years to poor ambulation, falls, ataxia, spasticity, increasing seizures and cognitive decline. Brain magnetic resonance imaging (MRI) reveals diffusely abnormal and mildly swollen white matter as well as subcortical cysts in the anterior temporal and frontoparietal regions. (Orphanet Rare Disease Ontology, Orphanet_2478)
External Link http://www.omim.org/entry/604004
Similar Terms
Downloads & Tools

Genes

1 genes associated with the megalencephalic leukoencephalopathy with subcortical cysts phenotype from the curated OMIM Gene-Disease Associations dataset.

Symbol Name
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1