Below is a summary for the DEAF1 gene observed in research publications. This is not meant to take the place of medical advice.
What is DEAF1-related syndrome?
DEAF1-related syndrome happens when there are changes to the DEAF1 gene. These changes can keep the gene from working as it should.
In people who have DEAF1-related syndrome, the DEAF1 gene change usually happens in a specific part of the gene called the “SAND” domain. This part of the gene plays a key role in DEAF1’s ability to control other genes.
The DEAF1 gene controls other genes that play a key role in early brain development.
Because the DEAF1 gene is important in the development and function of brain cells, many people who have DEAF1-related syndrome have:
- Intellectual disability
- Speech impairment
- Behavior issues
Do people who have DEAF1-related syndrome look different?
People who have DEAF1-related syndrome do not look very different.
Research Article Summaries