DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 2

Early infantile epileptic encephalopathy 2 [DOID:0080467]

An early infantile 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:  early infantile epileptic encephalopathy 2,  DOID:0080467,  X-linked infantile spasm syndrome 2,  Xlinked infantile spasm syndrome 2