"DOID:0080413"^^ . "GARD:13676"^^ . . . _:vb50940898 . "early infantile epileptic encephalopathy 18"^^ . . "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."^^ . _:vb50940898 . "disease_ontology"^^ . "developmental and epileptic encephalopathy 18"^^ . "OMIM:615476"^^ . "DEE18"^^ . _:vb50940898 . _:vb50940898 . . _:vb50940898 .