Families

Children and adults with changes in the SUPT16H gene often show developmental delays, meaning they learn to walk and talk later than expected. Most have some degree of intellectual disability and many show autism spectrum features such as social or communication differences. Low muscle tone (hypotonia) and motor coordination problems are also common. Some individuals have unusual facial features, feeding or digestive issues, or differences in the brain’s structure seen on MRI. Seizures occur in a few people, but are not a major feature of this condition.