Below is a summary for the PPP2R5D gene observed in research publications. This is not meant to take the place of medical advice.
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What is PPP2R5D-related syndrome?
PPP2R5D-related syndrome happens when there are changes to the PPP2R5D gene. These changes can keep the gene from working as it should.
The PPP2R5D protein is an enzyme that plays an important role in the development and function of brain cells.
Because the PPP2R5D gene is important for the brain, some people may have:
- Intellectual disability
- Low muscle tone
- Delayed walking
- Language impairment
- Behavior issues or impulses
- Low blood pressure
Do people who have PPP2R5D-related syndrome look different?
People who have PPP2R5D-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Larger than average head size
- Widely spaced eyes
- Large, noticeable forehead
- Low ear lobes
- Eye issues
- Bone and joint issues
How many people have PPP2R5D-related syndrome?
As of 2023, about 103 people with PPP2R5D-related syndrome have been described in medical research.
Research Article Summaries
Previous Registry Reports