Term Name: developmental and epileptic encephalopathy 100
Synonyms: DEE100, early infantile epileptic encephalopathy 100
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.
Ontology: Human Disease [DOID:0070386]   ( DOID:0070386 )

Relationships
is a type of: autosomal dominant disease developmental and epileptic encephalopathy