HNRNPR
The information for this summary of HNRNPR-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full HNRNPR Gene Guide
The online Gene Guide includes more information about HNRNPR such as the chance of having another child with this condition, behavior and development concerns linked to HNRNPR-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
HNRNPR-related syndrome is also called neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities. For this webpage, we will be using the name HNRNPR-related syndrome to encompass the wide range of variants observed in the people identified.
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.
Key Role
The HNRNPR gene plays an important role in human development.
Symptoms
Because the HNRNPR gene is important for brain activity, many people who have HNRNPR-related syndrome have:
- Intellectual disability
- Developmental delay
- Delays or difficulty in speaking
- Seizures
- Motor delays
- Attention-deficit/hyperactivity disorder (ADHD)
- Autism spectrum disorder
- Brain changes seen on magnetic resonance imaging (MRI)
How many people have HNRNPR-related syndrome?
As of 2025, about 14 people in the world with an HNRNPR genetic variant have been identified in medical research.
Support Resources
- HNRNP-Related Parent Connect – Facebook group
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about HNRNPR genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
We do not currently have any stories from HNRNPR families.
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