UPF3B
The information for this summary of UPF3B-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full UPF3B Gene Guide
The online Gene Guide includes more information about UPF3B such as the chance of having another child with this condition, behavior and development concerns linked to UPF3B-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
UPF3B-related syndrome is also called UPF3B-related disorder or intellectual developmental disorder, X-linked syndromic 14. For this webpage, we will be using the name UPF3B-related syndrome to encompass the wide range of variants observed in the people identified.
What is UPF3B-related syndrome?
UPF3B-related syndrome happens when there are changes in 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.
Symptoms
Because the UPF3B gene is important for brain activity, many people who have UPF3B-related syndrome have:
- Developmental delay
- Intellectual disability
- Autism
- Attention-deficit hyperactivity disorder (ADHD)
- Schizophrenia
- Seizures
- Speech delay or impairment
- Low muscle tone
- Brain changes seen on magnetic resonance imaging (MRI)
How many people have UPF3B-related syndrome?
As of 2025, about 43 people with UPF3B-related syndrome have been identified in medical research.
Support Resources
- Simons Searchlight Community – UPF3B Facebook group
- Geisinger Developmental Brain Disorder Gene Database – UPF3B
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 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!