Below is a summary of the CHAMP1 gene observed in research publications. This is not meant to take the place of medical advice.

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What is CHAMP1-related syndrome?

CHAMP1-related syndrome happens when there are changes to the CHAMP1 gene. These changes can keep the gene from working as it should.

Key Role

The CHAMP1 gene plays a key role in the growth of brain cells.


Because the CHAMP1 gene is important in the growth and function of brain cells, many people who have CHAMP1-related syndrome have:

  • Intellectual disability
  • Speech impairments
  • Small head, also called microcephaly
  • Low muscle tone

Do people who have CHAMP1-related syndrome look different?

People who have CHAMP1-related syndrome may look different. Appearance can vary and can include some but not all of these features:

  • Open mouth
  • Thin upper lip
  • Low muscle tone in the face

Support Resources



CHAMP1 2019 Virtual Family Meeting

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Research Article Summaries

Below, we have summarized research articles about changes in the CHAMP1 gene. We hope you find this information helpful. The information available about CHAMP1 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 CHAMP1 articles can be found here.

  • De novo truncating mutations in the kinetochore-microtubules attachment gene CHAMP1 cause syndromic intellectual disability Original research article by B. Isidor et al. (2016). Read the abstract here and read the Simons Searchlight summary here.
  • De novo mutations in CHAMP1 cause intellectual disability with severe speech impairment Original research article by M. Hempel et al. (2015). Read the article here and read the Simons Searchlight summary here.

Research Opportunities

Simons Searchlight Help the Simons Searchlight team learn more about CHAMP1 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 CHAMP1 families:

Click here to share your family’s story!