Below is a summary for the PTCHD1 gene observed in research publications. This is not meant to take the place of medical advice.
What is PTCHD1-related syndrome?
PTCHD1 related syndrome happens when there are changes to the PTCHD1 gene. These changes can keep the gene from working as it should. PTCHD1-related syndrome can also happen when larger segments of DNA are deleted. Then it is known as Xp22.11 deletion syndrome.
The PTCHD1 gene plays a key role in brain development and the function of brain cells.
Because the PTCHD1 gene is important in brain cells, many people who have PTCHD1-related syndrome have:
- Intellectual disability, or developmental delay, or both
- Autism spectrum disorder
- Low muscle tone, also known as hypotonia
Do people who have PTCHD1-related syndrome look different?
People who have PTCHD1-related syndrome may look slightly different. Appearance can vary and can include some but not all of these features:
- Long face
- Larger than average forehead
- Puffy eyelids
- Thin upper lip
Research Article Summaries