This website provides information on patients with bi-allelic mutations in the KDM5B gene, including clinical data, molecular data, management and research options.

The syndrome caused by bi-allelic mutations in the KDM5B gene is a multisystem disorder characterized by developmental delay, intellectual disability, facial dysmorphisms, finger anomalies, ophthalmologic problems, and overgrowth. Neurological signs, excessive joint flexibility, and/or heart problems can be present.

Not all individuals with bi-allelic mutations in the KDM5B 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 bi-allelic mutations in the KDM5B gene.

Philippe Campeau, MD, University of Montreal, Montreal, Canada, p.campeau@umontreal.ca

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