Term Name: developmental and epileptic encephalopathy 28
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 )

Relationships
is a type of: autosomal recessive disease developmental and epileptic encephalopathy