About   Help   FAQ
Disease Ontology Browser
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.

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory