Below is a summary for the HNRNPU gene observed in research publications. This is not meant to take the place of medical advice.
What is HNRNPU-related syndrome?
HNRNPU-related syndrome happens when there are changes to the HNRNPU gene. These changes can keep the gene from working as it should.
The HNRNPU gene plays a key role in the development of the brain. It is important in keeping people’s DNA organized in cells.
HNRNPU-related syndrome can have moderate to severe effects on the way that communication skills, social skills, and learning skills develop. Because the HNRNPU gene is important in development, many people who have HNRNPU-related syndrome may have:
- Developmental delay, or intellectual disability, or both
- Speech problems
- Autism spectrum disorder or features of autism
Do people who have HNRNPU-related syndrome look different?
People who have HNRNPU-related syndrome may have different facial features. Appearance can vary and can include some but not all of these features:
- Larger than average eyebrows
- Larger than average nasal bridge
- Larger space between the upper and lower eyelids
- Thin upper lip
Nearly 90 percent of people who have HNRNPU-related syndrome have at least one of these features.
Research Article Summaries