Visualize Submit Comment
Metadata
ID DOID:0080215
Name early infantile epileptic encephalopathy 8
Definition 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.
https://www.ncbi.nlm.nih.gov/pubmed/15215304, https://www.ncbi.nlm.nih.gov/pubmed/21633362
Xrefs

OMIM:300607

Parent Relationships

is_a early infantile epileptic encephalopathy

Add an item to the term tracker