developmental and epileptic encephalopathy 2 (DOID:0080467)
Alliance: disease page
Synonyms: DEE2; early infantile epileptic encephalopathy 2; EIEE2; X-linked infantile spasm syndrome 2
Alt IDs: OMIM:300672
Definition: A developmental and epileptic encephalopathy characterized by X-linked dominant inheritance of seizure onset in the first months of life, intellectual disability, and poor motor control that has_material_basis_in mutation in the CDKL5 gene on chromosome Xp22.