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.
Bregje van Bon, Clinical geneticist Radboud university medical centre, Department Human Genetics – division Clinical Genetics, Nijmegen The Netherlands firstname.lastname@example.org
Evan Eichler, Ph.D. (University of Washington, Seattle, USA), email@example.com