Human genes for developmental and epileptic encephalopathy 28
Developmental and epileptic encephalopathy 28 [DOID:0080452]
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.
Synonyms: developmental and epileptic encephalopathy 28, DOID:0080452, DEE28, early infantile epileptic encephalopathy 28