Below is a summary of the CHAMP1 gene observed in research publications. This is not meant to take the place of medical advice.
This latest report includes updated information about Simons Searchlight participants with CHAMP1-related syndrome using insights by families like yours. This report features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
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.
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
Research Article Summaries
Previous Registry Reports