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Research collaboration

Although Asadollahi-Rauch syndrome (MED13L haploinsufficiency syndrome or MED13L-related intellectual disability) is a rare disorder with an estimated prevalence of 1.6 per 100,000 births, it is among the more common causes of intellectual disability. Therefore, our aim is to better determine the spectrum of clinical manifestations and clinical course of the disorder for its better diagnosis and management. For that, we plan to collect clinically well-characterized patients with any de novo copy number or sequence variants affecting MED13L and assemble an international network of patients in a period of one year (2019). Based on our findings and the patient network, we hope to better characterize the syndrome and to consider the possibility of further experimental studies for the discovery of underlying pathomechanisms and affected biological pathways as the prerequisite for targeted therapy.