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