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

What is RERE-related syndrome?

RERE-related syndrome happens when there are changes to the RERE gene. These changes can keep the gene from working as it should.

Key Role

The RERE gene plays a key role in the development of the brain, heart, and eyes.


Because the RERE gene is important in the brain, heart, and eyes, many people who have RERE-related syndrome have:

  • Developmental delay, or intellectual disability, or both
  • Autism spectrum disorder or features of autism
  • Low muscle tone, also called hypotonia
  • Seizures
  • Changes in the eyes
  • Changes in the structure of the heart

Do people who have RERE-related syndrome look different?

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

  • Wide-set eyes
  • Deep-set eyes
  • Low-set ears
  • Flattened head

Support Resources



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.

Check out the GeneReviews for RERE.


Research Article Summaries

We currently do not have any articles summaries for RERE, but we add resources to our website as they become available.

The information available about RERE 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 RERE 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 RERE 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 RERE families.

Click here to share your family’s story!