This website provides information on patients with an autosomal recessive intellectual disability syndrome related to the DEAF1 gene, including clinical data, molecular data, management and research options.

Homozygous mutations in the DEAF1 gene cause dyskinesia, seizures, and intellectual developmental disorder (DYSEIDD; MiM#617171).

This website was created to identify additional patients with homozygous (or compound heterozygous) mutations in DEAF1 in order to increase knowledge on the consequences of DEAF1 mutations.

Clinicians who identify a patient with a mutation in DEAF1 are invited to submit this information to the database.

Anneke Vulto-van Silfhout, MD,PhD, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, Anneke.Vulto-van Silfhout@radboudumc.nl

Lisenka Peart-Vissers, PhD, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, Lisenka.Vissers@radboudumc.nl

Bert de Vries, MD, PhD, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, Bert.deVries@radboudumc.nl

Maria J. Nabais Sá, MD,MPH,PhD, Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands, Maria.NabaisSa@radboudumc.nl

Philip J. Jensik, PhD, Department of Physiology, Southern Illinois University School of Medicine, Carbondale, IL 62901, USA, pjensik@siumed.edu