This website provides information on patients with pathogenic variants in the RNF113A gene, including clinical data, molecular data, management, and research options.
The syndrome caused by pathogenic variants in the RNF113A gene is a multisystem disorder characterized by.
Not all individuals with pathogenic variants in the RNF113A 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 pathogenic variants in the RNF113A gene.

Anne Slavotinek, MB.BS., Ph.D, University of California, San Francisco, CA, anne.slavotinek@ucsf.edu