This website provides information on patients with mutations in the CRLS1 gene, including clinical data, molecular data and management options.

The syndrome caused by mutations in the CRLS1 gene is a multisystem disorder.
Not all individuals with a mutation in the CRLS1 gene have all the 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 CRLS1 gene.

Shanti Balasubramaniam, MBBS, Metabolic Geneticist, Biochemical Genetics Pathologist, Sydney, New South Wales, Australia, shanti.balasubramaniam@health.nsw.gov.au

Aleksandra Filipovska, PhD, The Kids Research Institute Australia, Perth, Western Australia, Australia, aleksandra.filipovska@uwa.edu.au

Richard G Lee, PhD, The Kids Research Institute Australia, Perth, Western Australia, Australia, richard.lee@uwa.edu.au