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Disease Ontology Browser
developmental and epileptic encephalopathy 47 (DOID:0080425)
Alliance: disease page
Synonyms: DEE47; early infantile epileptic encephalopathy 47
Alt IDs: OMIM:617166
Definition: A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28.


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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
03/19/2024
MGI 6.23
The Jackson Laboratory