Below is a summary for the HNRNPR gene observed in research publications. This is not meant to take the place of medical advice.
What is HNRNPR-related syndrome?
HNRNPR-related syndrome happens when there are changes to the HNRNPR gene. These changes can keep the gene from working as it should.
The HNRNPR gene plays an important role in human development.
Because the HNRNPR gene is important in the development and function of brain cells, many people who have HNRNPR-related syndrome have:
- Intellectual disability
- Development delay
- Delays or difficulty in speaking
- Motor delays
- Attention-deficit/hyperactivity disorder, also called ADHD
- Autism spectrum disorder
Do people who have HNRNPR-related syndrome look different?
People with HNRNPR-related syndrome may look different. Appearance can vary and can include, but are not limited to:
- Lower than average muscle tone
How many people have an HNRNPR genetic variant?
As of 2023, about 13 people in the world with an HNRNPR genetic variant have been included in medical research.