This website provides information on patients with mutations in the RFX3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the RFX3 gene is a multisystem disorder characterized by autism spectrum disorder (ASD), intellectual disability, and/or attention-deficit/hyperactivity disorder (ADHD); other frequent features include hypersensitivity to sensory stimuli and sleep problems.

Not all individuals with a mutation in the RFX3 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 RFX3 gene.


Timothy W. Yu, MD, PhD, Boston Children’s Hospital, Boston, USA, timothy.yu@childrens.harvard.edu

Holly Harris, MD, Texas Children’s Hospital, Houston, USA, hkhodges@texaschildrens.org

Jenny Lai, MD-PhD student, Harvard Medical School / Boston Children’s Hospital, Boston, USA, jenny_lai@hms.harvard.edu