This website provides information on patients with mutations in the FOXG1 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the FOXG1 gene is a multisystem disorder characterized by profound developmental delay and severe intellectual disability, often with absent speech, early-onset postnatal microcephaly and structural brain abnormalities such as agenesis of the corpus callosum, complex hyperkinetic movement disorders including dystonia and chorea, epilepsy, frequently beginning in infancy and often difficult to control, feeding difficulties, cortical visual impairment, and autism-related features.

Not all individuals with a mutation in the FOXG1 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 FOXG1 gene.

Francois Bolduc, MD, PhD, University of Alberta, Edmonton, Alberta, Canada, fbolduc@ualberta.ca