Parents

This condition is a recently recognised, rare genetic condition causing mild to moderate intellectual disability, low muscle tone, and unique facial features. Some individuals have developed obesity over time, and kidney and heart problems have been reported in a small number of individuals. As the condition is new and rare, we currently only have a small number of individuals reported. The condition is caused by a DNA change in one copy of the gene DDB1. So far, this DNA change has always been a new change in the individual affected with the condition.