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.
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
- 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
Research Article Summaries