Below is a summary for the NBEA gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
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