Term Name:	developmental and epileptic encephalopathy 116
Synonyms:	DEE116
Definition:	A developmental and epileptic encephalopathy characterized by severe developmental delay, seizures, and white matter abnormalities but normal plasma and cerebrospinal fluid biochemistry that has_material_basis_in heterozygous mutation in the GLUL gene on chromosome 1q25.3.
Ontology:	Human Disease [DOID:0070545]   ( DOID:0070545 )