Term Name: developmental and epileptic encephalopathy 8
Synonyms: DEE8, early infantile epileptic encephalopathy 8, EIEE8
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.
Ontology: Human Disease [DOID:0080215]   ( DOID:0080215 )

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