RELN
The information for this summary of RELN-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full RELN Gene Guide
The online Gene Guide includes more information about RELN such as the chance of having another child with this condition, behavior and development concerns linked to RELN-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is RELN-related syndrome?
RELN-related syndrome happens when there are changes in the RELN gene. These changes can keep the gene from working as it should.
Key Role
The RELN gene plays an important role in brain development, memory processing, and cognition.
Symptoms
Because the RELN gene is important for brain activity, many people who have RELN-related syndrome have:
- Developmental delay
- Intellectual disability
- Epilepsy
- Autism
- Brain changes seen on magnetic resonance imaging (MRI)
- Difficulty expressing and understanding written and spoken language
How many people have RELN-related syndrome?
As of 2025, at least 98 people with RELN-related syndrome have been identified in a medical clinic.
Support Resources
- Simons Searchlight Community – RELN Facebook Group
- Geisinger Developmental Brain Disorder Gene Database – RELN
GeneReviews
Gene Reviews 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.
Check out the GeneReviews for RELN.
Research Article Summaries
We currently do not have any articles summaries for RELN, but we add resources to our website as they become available.
The information available about RELN 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.
Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for RELN articles can be found here.
You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.
Research Opportunities
Simons Searchlight
Help the Simons Searchlight team learn more about RELN 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 RELN families.
Click here to share your family’s story!