Molecular characteristics

The ZDHHC9 gene makes an important protein (known as an enzyme) which controls where other proteins are located in brain cells. When the ZDHHC9 protein is not working, brain cells do not grow completely normally, and communication between brain cells may be different. This leads to problems like risk of epilepsy, and difficulties with learning. In future, we hope that a better understanding of this syndrome will help patients and families overcome the challenges they face living with ZDHHC9.