This website provides information on patients with MED13L syndrome (Asadollahi-Rauch syndrome) harbouring mutations in the MED13L gene, including clinical data, molecular data, management, and research options.
MED13L syndrome, also known as Asadollahi-Rauch syndrome, MED13L-related intellectual disability or MED13L haploinsufficiency syndrome, is a rare neurodevelopmental disorder 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
Anita Rauch, MD, Director and Professor of Medical Genetics, Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland, email@example.com
For simply explained updates on MED13L findings, you can follow: https://twitter.com/MED13L_UPDATE.