This website provides information on patients with mutations in the BRWD3 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the BRWD3 gene is a multisystem disorder characterized by macrocephaly (larger head circumference), often tall stature, mild to moderate developmental delay/intellectual disability, behavioural disturbances, subtle facial features including a prominent forehead, pointed chin deep-set eyes and prominent ears and skeletal changes. Not all individuals with a mutation in the BRWD3 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 BRWD3 gene.
Michael Field, MD, Genetics of Learning Disability (GOLD) Service, Hunter Genetics City, Wararah, New South Wales, Australia, Mike.Field@health.nsw.gov.au