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developmental and epileptic encephalopathy 78 (DOID:0112214)
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Synonyms: DEE78; early infantile epileptic encephalopathy 78
Alt IDs: OMIM:618557
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of refractory seizures followed by severely impaired intellectual development that has_material_basis_in heterozygous mutation in GABRA2 on chromosome 4p12.


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
09/22/2022
MGI 6.21
The Jackson Laboratory