Below is a summary for the ZNF292 gene observed in research publications. This is not meant to take the place of medical advice.
What is ZNF292-related syndrome?
ZNF292-related syndrome happens when there are changes to the ZNF292 gene. These changes can keep the gene from working as it should.
The ZNF292 gene plays a key role in brain growth.
Because the ZNF292 gene is important in the development and function of brain cells, many people who have ZNF292-related syndrome have:
- Intellectual disability
- Speech delay
How many people have ZNF292-related syndrome?
As of 2020, doctors had described about 30 people in the world with changes in the ZNF292 gene. The first case of ZNF292-related syndrome was described in 2019. Scientists expect to find more people who have the syndrome as access to genetic testing improves.
Do people who have ZNF292-related syndrome look different?
People who have ZNF292-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- A very small lower jaw
- Widely spaced eyes
Learn more about ZNF292-related syndrome and connect with other Simons Searchlight families with the resources below:
Research Article Summaries