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 )

Relationships
is a type of: developmental and epileptic encephalopathy X-linked dominant disease