Below is a summary for the EHMT1 gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
What is EHMT1-related syndrome?
EHMT1-related syndrome happens when there are changes to the EHMT1 gene. These changes can keep the gene from working as it should. EHMT1-related syndrome is also called Kleefstra syndrome. Kleefstra syndrome can also be caused by a larger genetic change that affects the EHMT1 gene and nearby genes.
The EHMT1 gene helps to control other genes.
Because the EHMT1 gene is important in the development and function of brain cells, many people who have EHMT1-related syndrome have:
- Intellectual disability and developmental delay
- Low muscle tone
- Speech and motor delay
Do people with EHMT1-related syndrome look different?
People who have EHMT1-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Small head
- Wide forehead
- Fused eyebrows and widely spaced eyes
- Epicanthal fold: a skin fold covering the inner corner of the eye
- Short nose and low bridge of nose
- Changes in ear shape
- Tented upper lip
Everyone studied to date that has EHMT1-related syndrome has intellectual disability or developmental delay.
60 to 80 percent have low muscle tone.
65 to 70 percent have behavior issues.
Research Article Summaries