This website provides information about MED13L syndrome (Asadollahi-Rauch syndrome) including clinical data, molecular data, management, and research options.
MED13L syndrome (Asadollahi-Rauch syndrome) is a rare neurodevelopmental disorder (with an estimated incidence of ~6 in 100,000 births) presenting with moderate to severe intellectual disability, hypotonia, distinctive facial gestalt and variable other anomalies such as congenital heart defects and epilepsy. De novo, likely gene disrupting variants including copy number losses and intragenic gains, and frameshift, stop and splice site sequence variants, as well as deleterious missense variants have been shown to cause the syndrome in an autosomal dominant manner. Despite the presence of clinical variability, genotype-phenotype correlation has been observed depending on harbouring a likely gene disrupting or a missense variant.
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 MED13L syndrome (Asadollahi-Rauch syndrome).
Reza Asadollahi, MD, PhD, Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland, firstname.lastname@example.org; xxxxx University of Greenwich London, Medway Campus, Chatham Maritime, United Kingdom, email@example.com
Anita Rauch, MD, Director and Professor of Medical Genetics, Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland, firstname.lastname@example.org
This website is supported by the MED13L Foundation.
For simply explained updates on MED13L findings, you can follow: https://twitter.com/MED13L_UPDATE.