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Summary Literature (0)
DOID:0080315 - megalencephalic leukoencephalopathy with subcortical cysts

Disease Ontology Definition: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.

Synonyms: megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome, megalencephalic leukodystrophy\\megalencephaly-cystic leukodystorphy syndrome, vacuolating megalencephalic leukoencephalopathy with subcortical cysts,

Xenbase Genes : mlc1, hepacam

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011391 - megalencephalic leukoencephalopathy with subcortical cysts


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): leukodystrophy (is_a)