Below is a summary for the USP9X gene observed in research publications. This is not meant to take the place of medical advice.
What is USP9X-related syndrome?
USP9X-related syndrome happens when there are changes to the USP9X gene. These changes can keep the gene from working as it should.
The USP9X gene plays a key role in early growth of the brain.
Because the USP9X gene is important in the development and function of brain cells, many people who have USP9X-related syndrome have:
- Intellectual disability
- Short height
- Language impairment
USP9X-related syndrome is more common in females than males.
Do people who have USP9X-syndrome look different?
People who have USP9X-related syndrome may look different. In a study of 20 females who have the syndrome, 70 percent had changes in their teeth, 65 percent had a curved spine, also known as scoliosis, and 50 percent had extra fingers.
Research Article Summaries