This website provides information on patients with mutations in the RAC3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the RAC3 gene is a multisystem disorder characterised by global developmental delay, severe intellectual disability, abnormal tone, structural abnormality of the brain such as polymicrogyria and callosal abnormalities, seizures and feeding difficulties. Not all individuals with a mutation in the RAC3 gene have these features.

This website was created to share and collect information about clinical, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the RAC3 gene.

Tiong Yang Tan, MBBS, FRACP, PhD, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Department of Paediatrics, University of Melbourne, Australia, tiong.tan@vcgs.org.au

Valentin Ruault, Resident, Clinical genetics unit, Genetics department, CHU de Montpellier, France, ruault.valentin@gmail.com