Below is a summary for the MYT1L 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 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
Many people have speech and language delays.
In a study of 10 people with MYT1L-related syndrome, 4 had autism.
All people who have MYT1L-related syndrome show some degree of intellectual disability.
Research Article Summaries