Term Name: | developmental and epileptic encephalopathy 28 |
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Synonyms: | DEE28, early infantile epileptic encephalopathy 28 |
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. |
Ontology: | Human Disease [DOID:0080452] ( DOID:0080452 ) |