This website provides information on patients with bi-allelic null mutations in the RAB11A gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the RAB11A gene is a multisystem disorder characterized by intellectual disability, developmental delay, gait disturbance and/or other motor phenotypes (e.g.: hypotonia, ataxia, spasticity), dysmorphology, visual anomalies and potential early adrenarche. Additional findings could include autistic behaviour, microcephaly and epilepsy. The latter seems associated with variants outside of the binding site domains, while variants affecting binding sites seem to be linked to a more multi-systemic phenotype, which could include gastrointestinal problems, cardiac problems and obesity.
Not all individuals with a mutation in the RAB11A 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 RAB11A gene.

Philippe Campeau, MD, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Canada, p.campeau@umontreal.ca

Maria Carla Borroto, MD-MSc candidate, University of Montreal, Montreal, Canada, maria.carla.hermida.borroto@umontreal.ca