This website provides information on patients with mutations in the HPSE2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the HPSE2 gene is a multisystem disorder characterized by urinary bladder voiding dysfunction and an unusual facial expression on smiling

Not all individuals with a mutation in the HPSE2 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 HPSE2 gene.

William Newman, MD, PhD, Manchester Centre for Genomic Medicine, University of Manchester, Manchester, UK, william.newman@manchester.ac.uk