This website provides information on patients with mutations in the PRORP gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the PRORP gene is a multisystem disorder characterized by sensorineural hearing loss, primary ovarian insufficiency, and leukodystrophy.
Not all individuals with a mutation in the PRORP 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 PRORP gene.
William Newman, MD, PhD, Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK, firstname.lastname@example.org