Below is a summary for the UPF3B gene observed in research publications. This is not meant to take the place of medical advice.

What is UPF3B-related syndrome?

UPF3B-related syndrome happens when there are changes to the UPF3B gene. These changes can keep the gene from working as it should.

Key Role

The UPF3B protein plays an important role in processing RNA in the cell and in the development and function of the brain.


Because the UPF3B gene is important for the proper function of the body’s cells, some people may have:

  • Intellectual disability
  • Autism
  • Nasal voice
  • Low muscle tone
  • Attention deficit hyperactivity disorder, also called ADHD
  • Schizophrenia

Do people who have UPF3B-related syndrome look different?

People with UPF3B-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Smaller than average head size
  • Thin body type and tall height
  • Longer than average face
  • Sideways curvature of the spine, also called scoliosis
  • Forward rounding of the upper back

How many people have UPF3B-related syndrome?

As of 2022, about 17 people with UPF3B-related syndrome have been identified in a medical clinic.


Support Resources



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 UPF3B.


Research Article Summaries

We currently do not have any article summaries for UPF3B, but we add resources to our website as they become available.

The information available about UPF3B 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 UPF3B 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 UPF3B genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

We do not currently have any stories from UPF3B families.

Click here to share your family’s story!