Term Name: | developmental and epileptic encephalopathy 2 |
---|---|
Synonyms: | DEE2, early infantile epileptic encephalopathy 2, EIEE2, X-linked infantile spasm syndrome 2 |
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. |
Ontology: | Human Disease [DOID:0080467] ( DOID:0080467 ) |