This website provides information on patients with mutations in the WDR26 gene, including clinical data, molecular data, management and research options.

The Skraban-Deardorff Syndrome (SKDEAS, OMIM 617616), caused by mutations in the WDR26 gene, is a multisystem disorder characterized by intellectual disability/developmental delay, seizures, abnormal gait and distinctive facial features.

Not all individuals with a mutation in WDR26 have every feature, so 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 WDR26.

Dr. Matthew Deardorff, MD PhD, Clinical Geneticist, Children’s Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, USA, mdeardorff@chla.usc.edu

Dr. Cara Skraban, MD, Clinical Geneticist, Children’s Hospital of Philadelphia and the University of Pennsylvania Perelman School of Medicine, Philadelphia, USA, skrabanc@email.chop.edu