Below is a summary for the MYT1L gene observed in research publications. This is not meant to take the place of medical advice.
What is MYT1L-related syndrome?
MYT1L-related syndrome happens when there are changes to the MYT1L gene. These changes can keep the gene from working as it should.
The MYT1L gene plays a key role in the development of the brain.
MYT1L-related syndrome can affect the development of communication skills, social skills, and learning skills. Because MYT1L is important in the development of the brain, many people who have MYT1L-related syndrome have:
- Motor and speech delay
- Mild to moderate intellectual disability
- Excessive hunger and obesity that begins early in life
- Behavior problems, including hyperactivity and autism spectrum disorder
Do people who have MYT1L-related syndrome look different?
People who have MYT1L-related syndrome generally don’t look very different. Appearance can vary and can include some but not all of these features:
- Long chin
- Nose that has a broad base and tip
- Large mouth
- Narrow eyes
- Square-shaped trunk
Research Article Summaries