This website provides information on patients with mutations in the DNMT3A gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the DNMT3A gene is a multisystem disorder characterized by an intellectual disability (most frequently in the moderate range) and increased growth (height, head circumference and/or weight at least two standard deviations above the mean). Other frequent findings include autistic spectrum disorder, ligamentous laxity, hypotonia and scoliosis. A recognisable facial appearance is associated.

The syndrome caused by mutations in the DNMT3A gene is a multisystem disorder characterized by an intellectual disability (most frequently in the moderate range) and increased growth (height, head circumference and/or weight at least two standard deviations above the mean). Other frequent findings include autistic spectrum disorder, ligamentous laxity, hypotonia and scoliosis. A recognisable facial appearance is associated.

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 DNMT3A gene.

Katrina Tatton-Brown, BMBCh, MD, St. George's University of London, London, United Kingdom.