Below is a summary for the TRIP12 gene observed in research publications. This is not meant to take the place of medical advice.
What is TRIP12-related syndrome?
TRIP12-related syndrome happens when there are changes to the TRIP12 gene. These changes can keep the gene from working as it should.
The TRIP12 gene plays a key role in the basic function of the cell.
Because the TRIP12 gene is important in the development and function of brain cells, many people who have TRIP12-related syndrome have:
- Intellectual disability
- Speech delay
Do people who have TRIP12-related syndrome look different?
People who have TRIP12-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Ears: Differences in the shape of the ear, such as large lobes.
- Eyes: Differences in the shape of the eye, such as a skin fold of the upper eyelid that covers the inner corner, known as an epicanthic fold.
- Mouth: A wide mouth.
Everyone studied to date that has TRIP12-related syndrome has an intellectual disability or developmental delay. [100 percent]
Everyone studied to date has a speech delay. [100 percent]
Many people have aggressive episodes. [75 percent]
Most people have autism or signs of autism. [70 percent]
Learn more about the TRIP12 gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries