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.
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
- Nasal voice
- Low muscle tone
- Attention deficit hyperactivity disorder, also called ADHD
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.
Research Article Summaries