This website provides information on patients with mutations in the MYT1L gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the MYT1L gene is a multisystem disorder characterized by mild to moderate intellectual disability. Patients present with motor delay, speech delay and overweight. Additional features may include behavioral problems, such as autism, aggression, hyperactivity, stereotypic hand movements, and sleep disturbances.
Not all individuals with a mutation in the MYT1L gene have these features.
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 mutations in the MYT1L gene.
Björn Menten, PhD, Center for Medical Genetics, Ghent, Belgium, firstname.lastname@example.org
David A. Koolen, MD PhD, Department of Human Genetics, Donders Centre for Brain, Cognition and Behaviour, Radboud university medical center, P.O. Box 9101, 6500 HB, Nijmegen, The Netherlands, David.Koolen@radboudumc.nl
Alisdair McNeill, FRCP Edin PhD DCH, Senior Clinical Research Fellow & Honorary Consultant in Clinical Genetics, The University of Sheffield, Sheffield, UK, email@example.com
To share and collect information about clinic management and research projects.