DISEASES

Disease-gene associations mined from literature

Human genes for early infantile epileptic encephalopathy 8

Early infantile epileptic encephalopathy 8 [DOID:0080215]

An early infantile epileptic encephalopathy characterized by seizures with onset before 2 years of age, severe developmental delay, and in some patients hyperekplexia that has_material_basis_in X-linked recessive inheritance of a mutation in the ARHGEF9 gene on chromosome Xq22.1.

Synonyms:  early infantile epileptic encephalopathy 8,  DOID:0080215