This website provides information on patients with mutations in the MED13 gene, including clinical data, molecular data, management and research options.
The syndrome caused by mutations in the MED13 gene is a multisystem disorder characterized by intellectual disability and/or developmental delays, including speech delays or disorders. Other features reported in two or more patients include autism spectrum disorder, attention deficit hyperactivity disorder, optic nerve abnormalities, Duane anomaly, hypotonia, mild congenital heart abnormalities, and dysmorphisms.
Not all individuals with a mutation in the MED13 gene have these features. Indeed, recently has been reported a patient carrying a de novo missense mutation in the MED13 gene and a clinical picture characterized by developmental and epileptic encephalopathy with infantile spasms.
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 MED13 gene.
Flavio Faletra, MD, Medical Genetics, Academic Hospital of Udine, Italy, firstname.lastname@example.org
Catia Mio, PhD, Medical Genetics, University of Udine, Italy, email@example.com