developmental and epileptic encephalopathy 100 (DOID:0070386)
Alliance: disease page
Synonyms: DEE100; early infantile epileptic encephalopathy 100
Alt IDs: OMIM:619777
Definition: A developmental and epileptic encephalopathy characterized by onset of variable types of seizures in the first months or years of life preceded by global developmental delay that has_material_basis_in heterozygous mutation in the FBXO28 gene on chromosome 1q42.