Below is a summary for the ARHGEF9 gene observed in research publications. This is not meant to take the place of medical advice.
What is ARHGEF9-related syndrome?
ARHGEF9-related syndrome happens when there are changes to the ARHGEF9 gene. These changes can keep the gene from working as it should.
The ARHGEF9 gene plays a key role in the communication that takes place between brain cells.
Because the ARHGEF9 gene is important in the function of brain cells, many people who have ARHGEF9-related syndrome have:
- Intellectual disability
- Changes in facial features
Do people who have ARHGEF9-related syndrome look different?
People who have ARHGEF9-related syndrome may look different. The differences are often more noticeable in males. Appearance can vary and can include some but not all of these features:
- Large, fleshy earlobes
- Large jaw, also called prognathism
- A sunken appearance in the middle of the face, also called midface hypoplasia
Research Article Summaries