Below is a summary for the ZNF292 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
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
Almost everyone has speech delays.
More than one-half had autism or symptoms of autism. One-third had attention deficit hyperactivity disorder, also called ADHD.
Of those who had a medical test called an MRI that looks at the structure of the brain, about one-half had changes in brain structure.
Learn more about ZNF292-related syndrome and connect with other Simons Searchlight families with the resources below:
Research Article Summaries