Below is a summary for the RELN gene observed in research publications. This is not meant to take the place of medical advice.

What is RELN-related syndrome?

RELN-related syndrome happens when there are changes to 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.


Because the RELN gene is important for the brain, some people may have:

  • Intellectual disability
  • Epilepsy
  • Autism
  • Brain changes seen on magnetic resonance imaging (MRI)
  • Difficulty expressing and understanding written and spoken language

Do people who have RELN-related syndrome look different?

People who have RELN-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Smaller than average head size
  • Low sloping forehead

How many people have RELN-related syndrome?

As of 2022, at least 20 people with RELN-related syndrome have been described in medical research.


Support Resources



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!