This website provides information on patients with mutations in the RPH3A gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the RPH3A gene is a multisystem disorder characterized by a clinically variable neurodevelopmental presentation. The clinical spectrum ranges from high-functioning autism spectrum disorder with learning disabilities to a more severe phenotype characterized by drug-resistant epilepsy, intellectual disability, and hypotonia.

Not all individuals with a mutation in the RPH3A 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 RPH3A gene.

Alfredo Brusco, PhD, Department of Neuroscience, University of Turin, Turin, Italy, alfredo.brusco@unito.it

Lisa Pavinato, PhD, Stem cell and Cancer Research Lab, Institute of Oncology Research, Bellinzona, Switzerland, lisa.pavinato@unito.it