Term Name:	developmental and epileptic encephalopathy 54
Synonyms:	DEE54, early infantile epileptic encephalopathy 54
Definition:	A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset refractory seizures, and severe intellectual disability that has_material_basis_in heterozygous mutation in the HNRNPU gene on chromosome 1q44.
Ontology:	Human Disease [DOID:0080418]   ( DOID:0080418 )