This website provides information on patients with mutations in the HARS2 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the HARS2 gene is a multisystem disorder characterized by sensorineural hearing loss and primary ovarian insufficiency
Not all individuals with a mutation in the HARS2 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 HARS2 gene.
William G Newman, MD, PhD, Manchester Centre for Genomic Medicine, University of Manchester, Machester, UK, firstname.lastname@example.org
Leigh A.M. Demain, PhD, Manchester Centre for Genomic Medicine, Manchester University Hospitals NHS Trust, Manchester, UK, Leigh.Demain@mft.nhs.uk