CNOT3

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.

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.

Learning

Everyone who has CNOT3-related syndrome has some degree of learning disability, ranging from mild to severe.

Muscle tone

People who have CNOT3-related syndrome often have low muscle tone.

Other motor concerns

Motor delay is common.

Support Resources

Simons Searchlight Community – CNOT3 Facebook group
Geisinger Developmental Brain Disorder Gene Database – CNOT3

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

Stories from CNOT3 families:

Zophia

Click here to share your family’s story!