This website provides information on patients with mutations in the TRIP12 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the TRIP12 gene is a multisystem disorder characterized by intellectual disability, autism spectrum disorder and behavioural anomalies including stereotypic behaviour. Not all individuals with a mutation in the TRIP12 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 TRIP12 gene.
Dr. med. Nuria Bramswig, Institut für Humangenetik, Essen, Germany, firstname.lastname@example.org
Prof. Dr. med. Dagmar Wieczorek, Institut für Humangenetik, Düsseldorf, Germany, email@example.com