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megalencephalic leukoencephalopathy with subcortical cysts 2B (DOID:0080317)
Alliance: disease page
Synonyms: megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Alt IDs: OMIM:613926
Definition: A megalencephalic leukoencephalopathy with subcortical cysts characterized by infantile-onset macrocephaly and mildly delayed motor development associated with white matter abnormalities that improve with age, and sometimes mental retardation that has_material_basis_in heterozygous mutation in the HEPACAM gene on chromosome 11q24.

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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11/12/2024
MGI 6.24 		The Jackson Laboratory