This website provides information on patients with mutations in the ACTL6B gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the ACTL6B gene is a multisystem disorder characterized by intellectual developmental disorder with severe speech and ambulation defects, hypotonia and minor facial dysmorphisms (wide mouth, diastema, bulbous nose). Not all individuals with a mutation in the ACTL6B 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 ACTL6B gene.
Philippe Campeau, MD, Principal Investigator, CHU Sainte Justine, Mother and Child University Hospital, Montreal, Canada, firstname.lastname@example.org