Below is a summary for the CTBP1 gene observed in research publications. This is not meant to take the place of medical advice.

What is CTBP1-related syndrome?

CTBP1-related syndrome happens when there are changes in the CTBP1 gene. These changes can keep the gene from working as it should.

CTBP1-related syndrome is also called hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (HADDTS).

Key Role

The CTBP1 gene plays an important role in controlling the cell cycle; the cell’s response to DNA damage; and cell metabolism, the process by which cells make energy.


Because the CTBP1 gene is important for many different parts of the body, many people may have:

  • Feeding issues
  • Low muscle tone
  • Delayed motor abilities
  • Issues walking
  • Speech problems
  • Brain changes seen on magnetic resonance imaging (MRI)

Do people who have CTBP1-related syndrome look different?

People who have CTBP1-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Bulging of the forehead
  • Underdeveloped chin
  • Deep-set eyes
  • Teeth issues

How many people have CTBP1-related syndrome?

As of 2022, about 17 people in the world with CTBP1-related syndrome have been described in medical research.


Support Resources


Research Article Summaries

Below, we have summarized research articles about changes in the CTBP1 gene. We hope you find this information helpful.

The information available about CTBP1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have a change in this gene, we expect this 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 CTBP1 articles can be found here.


A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia and tooth enamel defects

Original research article by D.B. Beck et al. (2016).

Read the abstract here and the Simons Searchlight summary here.


Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CTBP1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.


Family Stories

Stories from CTBP1 families:

Click here to share your family’s story!