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Summary Literature (0)
DOID:0080316 - megalencephalic leukoencephalopathy with subcortical cysts 1

Disease Ontology Definition: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 the MLC1 gene on chromosome 22q13.

Synonyms: leukoencephalopathy with swelling and cysts, Van Der Knaap disease

Xenbase Genes : mlc1, hepacam

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0024555 - megalencephalic leukoencephalopathy with subcortical cysts 1


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), megalencephalic leukoencephalopathy with subcortical cysts (is_a)