Below is a summary for the CNOT3 gene observed in research publications. This is not meant to take the place of medical advice.
What is CNOT3-related syndrome?
CNOT3-related syndrome happens when there are changes to the CNOT3 gene. These changes can keep the gene from working as it should.
The CNOT3 gene plays a key role in development and in controlling the activity of other genes.
Because the CNOT3 gene is important in the development, many people who have CNOT3-related syndrome have:
- Low muscle tone
- Developmental delay, or intellectual disability, or both
- Behavior issues, including autism
- Short height
Do people who have CNOT3-related syndrome look different?
People who have CNOT3-related syndrome do not look very different.
Research Article Summaries