Below is a summary for the RORB gene observed in research publications. This is not meant to take the place of medical advice.
What is RORB-related syndrome?
RORB-related syndrome happens when there are changes to the RORB gene. These changes can keep the gene from working as it should.
The RORB gene is located on chromosome 9, in a region called 9q21. Some people are missing a piece of chromosome 9q21 that includes the RORB gene and have what is called a 9q21-related syndrome. Others have a small change within the RORB gene itself. People who have these different syndromes have symptoms that overlap.
The RORB gene plays a key role in the growth of different types of brain cells.
Because the RORB gene is important in the development and function of brain cells, many people who have RORB-related syndrome have:
- Developmental delay, or intellectual disability, or both
- Autism or features of autism
- Speech issues
Do people who have RORB-related syndrome look different?
People who have RORB-related syndrome do not look different.
Research Article Summaries