Below is a summary for the PHIP gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about PHIP such as the chance of having another child with this condition, behavior and development concerns linked to PHIP -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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.
PHIP -related syndrome is also called Chung-Jansen Syndrome.
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
Research Article Summaries