Below is a summary of the CHD2 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 the chance of having another child with this condition, or specialists to consider for people with this condition.
What is CHD2-related syndrome?
CHD2-related syndrome happens when there are changes to the CHD2 gene. These changes can keep the gene from working as it should.
The CHD2 gene plays a key role in the brain and body.
Many people who have CHD2-related syndrome have:
- Developmental delay, intellectual disability
- Autism spectrum disorder or symptoms of autism
- Epilepsy that starts at a young age
- Behavioral challenges
- Short height and a small head
Do people who have CHD2-related syndrome look different?
In general, people who have CHD2-related syndrome do not look very different. They may be short and have a small head.
6 out of 15 have autism.
8 out of 11 have behavior issues, most often aggression.
9 out of 12 have seizures that are caused by flashing lights.
4 out of 16 people did not have seizures for 2 to 5 years when they were taking medicine.
One half of people who have the syndrome are short.
Research Article Summaries