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.
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
- 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.
Research Article Summaries