Below is a summary for the RIMS1 gene observed in research publications. This is not meant to take the place of medical advice.
What is RIMS1-related syndrome?
RIMS1-related syndrome happens when there are changes to the RIMS1 gene. These changes can keep the gene from working as it should.
Genetic variants in RIMS1 can also cause another condition called cone-rod dystrophy that causes vision loss. The information below focuses on genetic variants that lead to a neurodevelopmental condition.
The RIMS1 gene is important for the function and development of brain cells.
Because the RIMS1 gene is important for the brain, some people may have:
- Intellectual disability
Do people who have RIMS1-related syndrome look different?
RIMS1-related syndrome is very rare, and it is unknown if people with this condition look different.
How many people have RIMS1-related syndrome?
As of 2022, about 13 people with RIMS1-related syndrome have been described in medical research.
Research Article Summaries