This website provides information on patients with mutations in the SETBP1 gene, including clinical data, molecular data, management and research options.
There are two disorders caused by mutations in the SETBP1 gene. The first is a severe multisystem disorder characterized by typical facial features, neurodevelopmental- and structural anomalies called Schinzel-Giedion syndrome. The other is characterised by delayed development and mainly affecting speech. Not all individuals with a mutation in the SETBP1 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 SETBP1 gene.
This website provides information about Schinzel-Giedion syndrome.
Bregje van Bon, Clinical geneticist
Radboud university medical centre,
Department of Human Genetics, division Clinical Genetics, Nijmegen,
Evan Eichler, Ph.D. (University of Washington, Seattle, USA), email@example.com