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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, MESH:C536141, 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 the MLC1 gene 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)
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last database update
02/20/2024
MGI 6.23
The Jackson Laboratory