Below is a summary for the PHF21A gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about PHF21A such as the chance of having another child with this condition, behavior and development concerns linked to PHF21A -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is PHF21A-Related Syndrome?
PHF21A-related syndrome happens when there are changes to the PHF21A gene. These changes can keep the gene from working as it should.
The PHF21A gene helps to control other genes and is important for the development of the brain.
Because the PHF21A gene is important in brain development, many people who have PHF21A-related syndrome have:
- Intellectual disability
- Increased weight, height, head size
Some people are missing a large segment of DNA that includes the PHF21A gene. This is called Potocki-Shaffer syndrome or 11p11.2-related syndrome, because the missing segment is on part of chromosome 11. Other people have a small change within the PHF21A gene itself. People who have these different syndromes have symptoms that overlap.
Research Article Summaries
Sources and References