RNU4-2
The information for this summary of RNU4-2-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full RNU4-2 Gene Guide
The online Gene Guide includes more information about RNU4-2 such as the chance of having another child with this condition, behavior and development concerns linked to RNU4-2-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
RNU4-2-related syndrome is also called ReNU syndrome (RENU). For this webpage, we will be using the name RNU4-2-related syndrome to encompass the wide range of variants observed in the people identified.
What is RNU4-2-related syndrome?
RNU4-2-related syndrome happens when there are changes in the RNU4-2 gene. These changes can keep the gene from working as it should.
Key Role
The RNU4-2 gene plays an important role in processing RNA in the cell and in the development and function of the brain.
Symptoms
Because the RNU4-2 gene is important for brain activity, many people who have RNU4-2-related syndrome have:
- Developmental delay
- Intellectual disability
- Learning challenges
- Language delay and or impairment
- Seizures
- Brain changes seen on magnetic resonance imaging (MRI)
- Autism
- Attention-deficit/hyperactivity disorder (ADHD)
- Anxiety
- Walking challenges
- Skeletal defects
- Feeding difficulties
- Vision issues
- Low muscle tone, also called hypotonia
- Smaller than average head size, also called microcephaly
- Short height
How many people have RNU4-2-related syndrome?
As of 2026, over 200 people with RNU4-2-related syndrome have been described in the medical research.
Support Resources
- Simons Searchlight Facebook Group –
- RENU Syndrome United – https://www.renusyndrome.org/
- SFARI Gene – RNU4-2
GeneReviews
GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.
Click here for the RNU4-2 GeneReviews.
Research Article Summaries
We currently do not have any article summaries for RNU4-2, but we add resources to our website as they become available.
The information available about RNU4-2 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about RNU4-2 genetic changes by taking part in our research. You can learn more about the project and sign up here.
External Research Opportunity: FaceMatch
FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.
Family Stories
We do not currently have any stories from RNU4-2 families.
Click here to share your family’s story!