Below is a summary for the PHF3 gene observed in research publications. This is not meant to take the place of medical advice.

What is PHF3-related syndrome?

Because PHF3 is so new in autism, we don’t have specific information on what medical problems you might expect now and in the near future. We can tell you that PHF3 plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.

Why does my child have a change in the PHF3 gene?

No parent causes their child’s de novo genetic change. We know this because no parent has any control over the genetic changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The genetic change takes place on its own and cannot be predicted or stopped.

How many people have a de novo gene change in the PHF3 gene?

As of 2019, researchers had found 7 people in the world with autism or neurodevelopmental disorders and changes in the PHF3 gene.

How are people who have changes in PHF3 treated?

Scientists and doctors have only just begun to study people who have changes in the PHF3 gene. At this point, there are no medicines designed to treat the condition. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies.


Support Resources

  • Simons Searchlight Community – PHF3 Facebook group
  • Geisigner Developmental Brain Disorder Gene Database – PHF3


GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for PHF3.


Research Article Summaries

We currently do not have any article summaries for PHF3, but we add resources to our website as they become available.

The information available about PHF3 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for PHF3 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about PHF3 genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

We do not currently have any stories from PHF3 families.

Click here to share your family’s story!