About   Help   FAQ
Disease Ontology Browser
megalencephalic leukoencephalopathy with subcortical cysts 1 (DOID:0080316)
Alliance: disease page
Synonyms: leukoencephalopathy with swelling and cysts; Van Der Knaap disease
Alt IDs: OMIM:604004, UMLS_CUI:C1858854
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 MLC1 on chromosome 22q13.

Disease References using Mouse Models (2)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer & Copyright Notice
Send questions and comments to User Support.
last database update
02/18/2020
MGI 6.14
The Jackson Laboratory