developmental and epileptic encephalopathy 91 (DOID:0080472)
Alliance: disease page
Synonyms: infantile or early childhood epileptic encephalopathy 1
Alt IDs: OMIM:617711
Definition: A developmental and epileptic encephalopathy characterized by onset of refractory multifocal seizures in the first weeks or years of life, delayed psychomotor development, poor or absent speech, and severe to profound intellectual disability that has_material_basis_in heterozygous mutation in the PPP3CA gene on chromosome 4q24.