Visualize Submit Comment

Metadata
ID	DOID:0080215
Name	developmental and epileptic encephalopathy 8
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. https://www.ncbi.nlm.nih.gov/pubmed/15215304, https://www.ncbi.nlm.nih.gov/pubmed/21633362
Xrefs	MIM:300607
Synonyms	DEE8 [EXACT] early infantile epileptic encephalopathy 8 [EXACT] EIEE8 [EXACT]
Parent Relationships	is_a developmental and epileptic encephalopathy is_a X-linked recessive disease