Below is a summary for the PHF21A 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 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.
Do people who have PHF21A-related syndrome look different?
People who have PHF21A-related syndrome may look different. One study of four people who have the syndrome found that two had flat foreheads and two had large heads.
SPEECH & LEARNING
4 out of 4 had a speech delay.
4 out of 4 had some degree of intellectual disability.
1 out of 3 had autism.
1 out of 3 seem to require lots of sleep.
Research Article Summaries