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

The syndrome caused by mutations in the SET gene is a multisystem disorder characterized by intellectual disability, learning disability, speech and language delay, delayed motor development and mild facial dysmorphisms.
Not all individuals with a mutation in the SET gene may  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 SET gene.

Servi JC Stevens, phD, Dept. Clinical Genetics, Maastricht University Medical Centre, Maastricht, the Netherlands, servi.stevens@mumc.nl