HNRNPC
The information for this summary of HNRNPC-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full HNRNPC Gene Guide
The online Gene Guide includes more information about HNRNPC such as the chance of having another child with this condition, behavior and development concerns linked to HNRNPC-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
HNRNPC-related syndrome is also called intellectual developmental disorder, autosomal dominant 74. For this webpage, we will be using the name HNRNPC-related syndrome to encompass the wide range of variants observed in the people identified.
What is HNRNPC-related syndrome?
HNRNPC-related syndrome happens when there are changes in the HNRNPC gene. These changes can keep the gene from working as it should.
Key Role
HNRNPC binds and cuts a molecule in the cell called RNA. RNA is made from a DNA sequence and is needed for cell protein production. The HNRNPC gene plays an important role in the development of the brain.
Symptoms
Because the HNRNPC gene is important for the brain, some people may have:
- Developmental delay
- Intellectual disability
- Speech delay
- Poor or absent speech
- Delayed walking or inability to walk
- Lower than average muscle tone (hypotonia) and/or higher than average muscle tone (hypertonia)
- Seizures
- Brain changes seen on magnetic resonance imaging (MRI)
How many people have HNRNPC-related syndrome?
As of 2025, 13 people with HNRNPC-related syndrome have been described in medical research.
Support Resources
- HNRNP-Related Parent Connect – Facebook group
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about HNRNPC genetic changes by taking part in our research. You can learn more about the project and sign up here.
Family Stories
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