This website provides information on patients with mutations in the MSL2 gene, including clinical data, molecular data, management and research options.

The Karayol-Borroto-Haghshenas neurodevelopmental syndrome (KBHS) is caused by mutations in the MSL2 gene. KBHS is a multisystem disorder characterized by global developmental delay, intellectual disability, hypotonia, and potential motor issues such as coordination problems, feeding difficulties, and gait disturbance. Dysmorphisms and behavioral and/or psychiatric conditions, including autism spectrum disorder, and to a lesser extent, seizures, connective tissue disease signs, sleep disturbance, vision problems, and other organ anomalies could also be found, including heart anomalies.
Not all individuals with a mutation in the MSL2 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 MSL2 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