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Disease Ontology Browser
megalencephalic leukoencephalopathy with subcortical cysts (DOID:0080315)
Alliance: disease page
Synonyms: megalencephalic leukodystrophy megalencephaly-cystic leukodystorphy syndrome; vacuolating megalencephalic leukoencephalopathy with subcortical cysts
Alt IDs: MESH:C536141, OMIM:PS604004, ORDO:2478, UMLS_CUI:C1858854
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.

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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Send questions and comments to User Support. 		last database update
12/17/2024
MGI 6.24 		The Jackson Laboratory