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developmental and epileptic encephalopathy 43 (DOID:0080447)
Alliance: disease page
Synonyms: DEE43; early infantile epileptic encephalopathy 43
Alt IDs: OMIM:617113
Definition: A developmental and epileptic encephalopathy characterized by onset in the first year of life of seizures, global developmental delay, and mild to moderate intellectual disability that has_material_basis_in heterozygous mutation in the GABRB3 gene on chromosome 15q11.


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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
02/13/2024
MGI 6.23
The Jackson Laboratory