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

The syndrome caused by mutations in the NFIB gene is a multisystem disorder characterized by global developmental delay, macrocephaly, brain and spine malformation and dysmorphism.

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

Himanshu Goel, MD, Hunter New England Local Health District, Waratah, Australia, himanshu.goel@health.nsw.gov.au