This website provides information on patients with Asadollahi-Rauch syndrome harbouring mutations in the MED13L gene, including clinical data, molecular data, management, and research options.
Asadollahi-Rauch syndrome, also known as MED13L haploinsufficiency syndrome or MED13L-related intellectual disability, 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 Asadollahi-Rauch syndrome.
Anita Rauch, MD, Director and Professor of Medical Genetics, Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland, email@example.com
Reza Asadollahi, MD, PhD, Institute of Medical Genetics, University of Zurich, Schlieren-Zurich, Switzerland, firstname.lastname@example.org