Below is a summary for the ASH1L 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 ASH1L -related syndrome?
ASH1L -related syndrome happens when there are changes to the ASH1L gene. These changes can keep the gene from working as it should.
The ASH1L gene plays a key role in brain development. It controls the activity of other genes.
ASH1L -related syndrome can have mild to severe effects on the development of communication, social, and learning skills. Because the ASH1L gene is important in the development of brain cells, many people who have ASH1L -related syndrome have:
- Speech delay
- Intellectual disability
- Learning difficulties
Do people who have ASH1L -related syndrome look different?
People who have ASH1L -related syndrome generally do not look very different from others.
Behavior, Speech and Development
11 out of 13 had behavioral issues, including autism, ADHD, and obsessive behaviors.
5 out of 13 had speech delay.
13 out of 13 had intellectual disability.
Research Article Summaries