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Disease Ontology Browser
developmental and epileptic encephalopathy 74 (DOID:0112210)
Alliance: disease page
Synonyms: DEE74; early infantile epileptic encephalopathy 74
Alt IDs: OMIM:618396
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures and severe global developmental delay with hypotonia, severe motor impairment, roving eye movements, and absent language that has_material_basis_in heterozygous mutation in GABRG2 on chromosome 5q34.


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
11/15/2022
MGI 6.22
The Jackson Laboratory