Below is a summary for the PPP2R1A gene observed in research publications. This is not meant to take the place of medical advice.
What is PPP2R1A-related syndrome?
PPP2R1A-related syndrome happens when there are changes to the PPP2R1A gene. These changes can keep the gene from working as it should.
The PPP2R1A gene plays an important role in brain cells.
Because the PPP2R1A gene is important for the brain, some people may have:
- Difficulty speaking, or inability to speak
- Inability to walk
- Low muscle tone
- Brain changes seen on magnetic resonance imaging (MRI)
- Heart defects at birth
- Attention deficit hyperactivity disorder, also called ADHD
- Feeding issues
Do people who have PPP2R1A-related syndrome look different?
People who have PPP2R1A-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Taller than average height
- Smaller or larger than average head size
- Wide-set eyes
- Open mouth
How many people have PPP2R1A-related syndrome?
As of 2022, about 50 people with PPP2R1A-related syndrome have been described in medical research.
Research Article Summaries