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 our full CNOT3 Gene Guide

The online Gene Guide includes more information about CNOT3 such as the chance of having another child with this condition, behavior and development concerns linked to CNOT3-related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.

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.

Key Role

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

How many people have CNOT3-related syndrome?

As of 2019, about 16 people in the world with changes in the CNOT3 gene had been described in the medical literature. The first case of CNOT3-related syndrome was described in 2017. Scientists expect to find more people who have the syndrome as access to genetic testing improves.

Of the 16 people described so far that have CNOT3-related syndrome, 8 people have changes that block the function of the CNOT3 gene. The other 8 people have changes that modify the gene but may not completely block its function. This type of change is called a missense change. Three of the people in the missense group have a change in the same location on the CNOT3 gene. Scientists are studying these changes to learn more about their effects on how the gene works.


Support Resources



GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for CNOT3.


Research Article Summaries

We currently do not have any article summaries for CNOT3, but we add resources to our website as they become available.

The information available about CNOT3 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for CNOT3 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CNOT3 genetic changes by taking part in our research. You can learn more about the project and sign up here.


Family Stories

Stories from CNOT3 families:


Click here to share your family’s story!