Below is a summary for the PHIP 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 PHIP-related syndrome?
PHIP-related syndrome happens when there are changes to the PHIP gene. These changes can keep the gene from working as it should.
The PHIP gene plays a key role in cell growth.
Because the PHIP gene is important in the development and function of brain cells, many people who have PHIP-related syndrome have:
- Intellectual disability or developmental delay
- Behavior issues, including autism
- Vision issues
Do people who have PHIP-related syndrome look different?
People who have PHIP-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- High forehead
- Curved pinky finger
- Full eyebrows
- Upturned nose
- Large ears
How many people have PHIP-related syndrome?
As of 2020, about 50 people in the world with changes in the PHIP gene had been described in the medical literature.
Research Article Summaries