Below is a summary for the ARID1B 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 ARID1B-related syndrome?
ARID1B-related syndrome happens when there are changes to the ARID1B gene. These changes can keep the gene from working as it should.
The ARID1B gene helps to control other genes that are important for brain growth.
Because the ARID1B gene is important in the development and function of brain cells, many people who have ARID1B-related syndrome have:
- Intellectual disability
- Behavior issues, including autism and attention deficit hyperactivity disorder, also known as ADHD
- Feeding difficulties
- Hearing issues
Do people who have ARID1B-related syndrome look different?
People who have ARID1B-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Excessive hair on different parts of the body: 75%
- Thick eyebrows: 68%
- Thinning hair on the scalp: 50%
- Short height: 20%
Research Article Summaries