This website provides information on patients with mutations in the ZRSR2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by germline hemizygous pathogenic variants in the ZRSR2 gene is an X-linked recessive multisystem disorder characterized by oral, facial, digital and brain anomalies  in males.

Not all individuals with a mutation in the ZRSR2 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 ZRSR2 gene.

Jeroen Breckpot, MD, PhD, Center for Human Genetics, Leuven, Belgium, cme@uzleuven.be