Below is a summary for the TRIP12 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
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.
Many people had aggressive episodes. Most people had autism.
Everyone studied to date that has TRIP12-related syndrome has speech delay.
Learn more about the TRIP12 gene and connect with other Simons Searchlight families with the resources below:
Research Article Summaries