Human genes for developmental and epileptic encephalopathy 2
Developmental and epileptic encephalopathy 2 [DOID:0080467]
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.
Synonyms: developmental and epileptic encephalopathy 2, DOID:0080467, DEE2, early infantile epileptic encephalopathy 2, EIEE2 ...