Term Name:	developmental and epileptic encephalopathy 18
Synonyms:	DEE18, early infantile epileptic encephalopathy 18
Definition:	A developmental and epileptic encephalopathy characterized by absence of developmental milestones, dysmorphic facial features, refractory seizures, and thick corpus callosum and persistent cavum septum pellucidum on brain imaging and that has_material_basis_in homozygous or compound heterozygous mutation in the SZT2 gene on chromosome 1p34.
Ontology:	Human Disease [DOID:0080413]   ( DOID:0080413 )