Below is a summary for the CNOT3 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 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.
Everyone who has CNOT3-related syndrome has some degree of learning disability, ranging from mild to severe.
People who have CNOT3-related syndrome often have low muscle tone.
Other motor concerns
Motor delay is common.
Research Article Summaries