PHF3

The information for this summary of PHF3-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our full PHF3 Gene Guide

The online Gene Guide includes more information about PHF3 such as the chance of having another child with this condition, behavior and development concerns linked to PHF3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

What is PHF3-related syndrome?

PHF3-related syndrome happens when there are changes in the PHF3 gene. These changes can keep the gene from working as it should.

Key Role

PHF3 plays an important role in controlling other genes in brain cells. 

Symptoms

Because the PHF3 gene is important for brain activity, many people who have PHF3-related syndrome have: 

  • Autism 
  • Developmental delay 
  • Intellectual disability

How many people have PHF3-related syndrome?

As of 2024, it is unclear how many people have PHF3-related syndrome. Many people have a PHF3 variant of uncertain significance. This means that it is unclear if the variant causes a problem for brain development.

Learn more about the PHF3 gene and connect with other Simons Searchlight families with the resources below:

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Support Resources

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

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.

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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.

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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.

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Family Stories

We do not currently have any stories from PHF3 families.

Click here to share your family’s story!