This website provides information on patients with mutations in the MYCBP2 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the MYCBP2 gene is a multisystem disorder characterized by a range of deficits including corpus callosum abnormalities, developmental delay, intellectual disability, epilepsy and autistic features.

Not all individuals with a mutation in the MYCBP2 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 MYCBP2 gene.

Lama AlAbdi, PhD, Translational Genomics (Center for Genomic Medicine), Riyadh, Saudi Arabia, lalabdi@kfshrc.edu.sa