Human genes for developmental and epileptic encephalopathy 8
Developmental and epileptic encephalopathy 8 [DOID:0080215]
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.
Synonyms: developmental and epileptic encephalopathy 8, DOID:0080215, DEE8, early infantile epileptic encephalopathy 8, EIEE8