Below is a summary for the NBEA gene observed in research publications. This is not meant to take the place of medical advice.
What is NBEA-related syndrome?
NBEA-related syndrome happens when there are changes to the NBEA gene. These changes can keep the gene from working as it should.
The NBEA gene plays a key role in the communication that happens between brain cells.
Because the NBEA gene is important in brain function, many people who have NBEA-related syndrome have:
- Developmental delay
- Small head size
Do people who have NBEA-related syndrome look different?
In general, people who have NBEA-related syndrome don’t look very different. Some people, less than 20 percent, have a smaller than average head size.
Research Article Summaries