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Disease Ontology Browser
developmental and epileptic encephalopathy 28 (DOID:0080452)
Alliance: disease page
Synonyms: 'DEE28'; 'early infantile epileptic encephalopathy 28'
Alt IDs: OMIM:616211
Definition: A developmental and epileptic encephalopathy characterized by onset in the first months of life of refractory seizures, severe axial hypotonia, and profoundly impaired psychomotor development that has_material_basis_in homozygous or compound heterozygous mutation in the WWOX gene on chromosome 16q23.


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