Parents

OTUD6B-associated syndrome is a genetic condition that affects multiple parts of the body. Some of the most common features associated with this condition include developmental delays/intellectual disability and seizures. Some patients can also have other features that are explained in the “clinical characteristics” section.

OTUD6B-associated syndrome is caused by having a genetic change, or variant, in both copies of the OTUD6B gene. It is not known how many people are affected with OTUD6B-associated syndrome, and fewer than 50 patients have been previously reported in scientific research.