This website provides information on patients with variants in the MSL3 gene, including clinical data, molecular data, management and research options.

The syndrome caused by variants in the X-linked MSL3 gene is a multisystem disorder affecting both, female and male and is characterized by global developmental delay, autism spectrum disorder, muscle tone abnormalities, macrocephaly, gastrointestinal problems, and hypoplasia of the cerebellar vermis.

Not all individuals with a variants in the MSL3 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 variants in the X-linked MSL3 gene.

Theresa Brunet, MD, Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany, theresa.brunet@mri.tum.de

Matias Wagner, MD, Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, 81675 Munich, Germany, matias.wagner@mri.tum.de