Below is a summary for the KMT2C gene observed in research publications. This is not meant to take the place of medical advice.
What is Kleefstra syndrome 2?
Kleefstra syndrome 2 happens when there are changes to the KMT2C . These changes can keep the gene from working as it should.
The KMT2C gene plays an important role in human development.
Because the KMT2C gene is important for the proper function of the body’s cells, some people may have:
- Short height
- Poor growth
- Sideways curvature of the spine, also called scoliosis
- Delayed motor development
- Intellectual disability
- Speech delay
Do people who have Kleefstra syndrome 2 look different?
People with Kleefstra syndrome 2 may look different. Appearance can vary and can include, but are not limited to, these features:
- Lower than average muscle tone
- Smaller than average head size
- Flatter than average middle of the face
- Eyebrows that stand out
How many people have Kleefstra syndrome 2?
As of 2023, about 12 people with Kleefstra syndrome 2 have been described in medical research.
Research Article Summaries