developmental and epileptic encephalopathy 18 (DOID:0080413)
Alliance: disease page
Synonyms: DEE18; early infantile epileptic encephalopathy 18
Alt IDs: OMIM:615476
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.