This website provides information on patients with mutations in the MED12 gene, including clinical data, molecular data, management and research options.

MED12-related disorders, caused by mutations in the MED12 gene, are multisystem disorders characterized by developmental delay and intellectual disability. Recognizable MED12-related disorders characterized by distinct facial dysmorphisms include FG, Lujan, and X-linked Ohdo syndrome. Nonsyndromic intellectual disability due to pathogenic variants in MED12 has also been reported.

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 MED12 gene.

Michael Lyons, MD, Greenwood Genetic Center, North Charleston, SC, USA, mlyons@ggc.org

Mike Friez, PhD, Greenwood Genetic Center, Greenwood, SC, USA, friez@ggc.org