This website provides information on patients with mutations in the ARHGEF9 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ARHGEF9 gene is a multisystem disorder characterized by Intellectual Disability (ID) and/or Developmental Delay (DD), a high incidence of seizures or epilepsy, abnormal baseline EEG, and varying presentation of additional symptoms including autism like features, anxiety, hyperactivity, and sleep abnormalities.
Not all individuals with a mutation in the ARHGEF9 gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the ARHGEF9 gene.
Rochelle Hines, PhD, University of Nevada Las Vegas, Las Vegas, Nevada, USA, rochelle.hines@unlv.edu