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

The syndrome caused by mono-allelic mutations in the KDM5B gene is a multisystem disorder characterized by developmental delay, impaired intellectual abilities, behavioral abnormalities, autistic traits, sleep disorders, facial dysmorphisms, and overgrowth. Neurological signs can be present. Involvement of other systems (skin, kidneys, heart, eyes, joints) has also been noted.
Not all individuals with a mono-allelic mutation 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 mono-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