Below is a summary for the EBF3 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about EBF3 such as the chance of having another child with this condition, behavior and development concerns linked to EBF3 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
What is EBF3 -related syndrome?
EBF3 -related syndrome happens when there are changes to the EBF3 gene. These changes can keep the gene from working as it should.
The EBF3 gene plays a key role in the growth of brain cells.
Because the EBF3 gene is important in the development and function of brain cells, many people who have EBF3 -related syndrome have:
- Developmental delay
- Intellectual disability
- Low muscle tone
- Certain facial features, including a triangular face
- Autism, or attention deficit hyperactivity disorder, also called ADHD, or both
Research Article Summaries
Sources and References