This website provides information on patients with heterozygous mutations in the DEAF1 gene, including clinical data, molecular data, management and research options.

Mental retardation, autosomal dominant 24 (MRD24; MIM#615828) caused by mutations in the DEAF1 gene, in heterozygosity, is a multisystem disorder characterized by intellectual disability with severe speech impairment and behavioural problems, such as autism.

This website was created to identify additional patients with 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