Below is a summary for the KMT2E gene observed in research publications. This is not meant to take the place of medical advice.
What is O’Donnell-Luria-Rodan syndrome?
O’Donnell-Luria-Rodan syndrome happens when there are changes in the KMT2E gene. These changes can keep the gene from working as it should.
The KMT2E gene plays an important role in controlling the cell cycle.
Because the KMT2E gene is important for many parts of the body, some people may have:
- Low muscle tone
- Speech delay
- Feeding and intestinal issues
- Autistic features
- Intellectual disability
- Brain changes seen on magnetic resonance imaging (MRI)
- Skin picking and self-harming behavior
Do people who have O’Donnell-Luria-Rodan syndrome look different?
People who have O’Donnell-Luria-Rodan syndrome may look different. Appearance can vary and can include some but not all of these features:
- Larger than average head size
- Prominent forehead
- Deep-set eyes
- A forward rounding of the upper back
How many people have O’Donnell-Luria-Rodan syndrome?
As of 2022, about 40 people in the world with O’Donnell-Luria-Rodan syndrome have been described in medical research.
Research Article Summaries