Below is a summary for the DDX3X gene observed in research publications. This is not meant to take the place of medical advice.
What is DDX3X-related syndrome?
DDX3X-related syndrome happens when there are changes to the DDX3X gene. These changes can keep the gene from working as it should.
DDX3X plays a key role in the growth of the brain.
Many people who have DDX3X-related syndrome have:
- Intellectual disability/developmental delay
- Low muscle tone
- Differences in facial features
- Movement disorders
Do people who have DDX3X-related syndrome look different?
People who have DDX3X-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- About 1 in 4 people have a small head
- About 1 in 4 people have a thin upper lip and large ears
Research Article Summaries