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

Tonne-Kalscheuer Syndrome (TOKAS) is caused by mutations in the RLIM gene. This syndrome is a multisystem disorder characterized by intellectual disability in combination to one or more congenital abnormalities in craniofacial, urogenital, ocular and skeletal systems, and in utero diaphragmatic hernia. This syndrome is associated with missense variants in the RLIM gene. Not all individuals with a mutation in the RLIM 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 RLIM gene.

Francisco Bustos, PhD, Sanford Research, Sioux Falls, SD, USA, Francisco.Bustos@sanfordhealth.org