This website provides information on patients with mutations in the DDB1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the DDB1 gene is a multisystem disorder characterized by intellectual disability, hypotonia, unique facial features, and digital anomalies.
Not all individuals with a mutation in the DDB1 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 DDB1 gene.

Sue White, MD, Victorian Clinical Genetics Services, Murdoch Children’s Research Institute, Melbourne, Australia, sue.white@vcgs.org.au