CNOT3

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.

Key Role

The CNOT3 gene plays a key role in development and in controlling the activity of other genes.

Symptoms

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.

+

Support Resources

+

GeneReviews

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

We do not currently have any stories from CNOT3 families.

Click here to share your family’s story!