Below is a summary for the HIVEP2 gene observed in research publications. This is not meant to take the place of medical advice.
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What is HIVEP2-related syndrome?
HIVEP2-related syndrome happens when there are changes to the HIVEP2 gene. These changes can keep the gene from working as it should.
The HIVEP2 gene plays a key role in the growth of the brain.
Because the HIVEP2 gene is important in the growth of the brain, many people who have HIVEP2-related syndrome have:
- Intellectual disability
- Behavior issues
- Low muscle tone
Do people who have HIVEP2-related syndrome look different?
People who have HIVEP2-related syndrome may look different. Appearance can vary and can include these features:
- High forehead
- Wide-set eyes
Research Article Summaries
Previous Registry Reports