developmental and epileptic encephalopathy 8 (DOID:0080215)
Alliance: disease page
Synonyms: DEE8; early infantile epileptic encephalopathy 8; EIEE8
Alt IDs: OMIM:300607
Definition: A developmental and 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.