Below is a summary for the MBOAT7 gene observed in research publications. This is not meant to take the place of medical advice.
What is MBOAT7 -related syndrome?
MBOAT7 -related syndrome happens when there are changes in both copies of the MBOAT7 gene. These changes can keep the gene from working as it should.
The MBOAT7 protein is important for mitochondria, which are the powerhouse of the cell.
Because the MBOAT7 gene is important for the brain, some people may have:
- Low muscle tone
- Issues with walking
- Difficulty with speech
- Brain changes seen on magnetic resonance imaging (MRI)
Do people who have MBOAT7 -related syndrome look different?
Most people who have MBOAT7 -related syndrome do not look different. Some people have a smaller than average head size.
How many people have MBOAT7 -related syndrome?
As of 2022, at least 47 people in the world with MBOAT7 -related syndrome have been described in medical research.
Research Article Summaries