This website provides information on patients with mutations in the WAC gene, including clinical data, molecular data, management and research options.
DeSanto-Shinawi syndrome, caused by mutations in the WAC gene, is a multisystem disorder characterized by hypotonia, variable degree of developmental delay/intellectual disability, behavioural abnormalities (including anxiety, ADHD, autism and sleep disturbances), respiratory and vision problems as well as a characteristic pattern of facial features. Not all individuals with a mutation in the WAC gene have these features.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and to provide better treatment of patients with mutations in the WAC gene.
Konstantinos Varvagiannis, MD, Department of Genetics, Institute of Child Health, Athens, Greece. email@example.com
Lisenka E.L.M. Vissers, PhD, Department of Human Genetics Radboud University Medical Center Nijmegen, The Netherlands. Lisenka.Vissers@radboudumc.nl
Bert B.A. de Vries, MD, PhD, Department of Human Genetics Radboud University Medical Center Nijmegen, The Netherlands. Bert.deVries@radboudumc.nl