Below is a summary for the KMT2A gene observed in research publications. This is not meant to take the place of medical advice.
What is KMT2A-related syndrome?
KMT2A-related syndrome happens when there are changes to the KMT2A gene. These changes can keep the gene from working as it should. KMT2A-related syndrome is also known as Wiedemann-Steiner syndrome.
The KMT2A gene plays a key role in how the brain and body develop.
Because the KMT2A gene is important in the development of the brain and the body, many people who have KMT2A-related syndrome have:
- Developmental delay
- Difficulty eating
- Slow growth
- Short height
- Extra hair growth on the body
Do people who have KMT2A-related syndrome look different?
People who have KMT2A-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Droopy eyelids
- Thick eyebrows
- Long eyelashes
- Wide-set eyes
Research Article Summaries