Below is a summary for the AFF2 gene observed in research publications. This is not meant to take the place of medical advice.
What is AFF2-related syndrome?
AFF2-related syndrome happens when there are changes to the AFF2 gene. These changes can keep the gene from working as it should. The AFF2 gene is also called FMR2 or FRAXE.
The AFF2 gene plays a key role in brain development.
Because the AFF2 gene is important in the development and function of brain cells, many people who have AFF2-related syndrome have:
- Intellectual disability
- Developmental and speech delays
- Autism or features of autism
- Hyperactivity and attention difficulties
- Behavior issues
Do people who have AFF2-related syndrome look different?
People who have AFF2-related syndrome typically do not look different from others.
Research Article Summaries