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developmental and epileptic encephalopathy 83 (DOID:0112218)
Alliance: disease page
Synonyms: 'DEE83'; 'early infantile epileptic encephalopathy 83'
Alt IDs: OMIM:618744
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of frequent, usually refractory, seizures and profoundly impaired development that has_material_basis_in homozygous or compound heterozygous mutation in UGP2 on chromosome 2p15.


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
06/23/2022
MGI 6.20
The Jackson Laboratory