This website provides information on patients with mutations in the FBXW7 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the FBXW7 gene is a multisystem disorder characterised by:
●    Global developmental delay and intellectual disability
●    Hypotonia
●    Gastrointestinal issues

Not all individuals with a mutation in the FBXW7 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 FBXW7 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