Below is a summary for the AHDC1 gene observed in research publications. This is not meant to take the place of medical advice.
What is AHDC1 syndrome?
AHDC1-related syndrome happens when there are changes to the AHDC1 gene. These changes can keep the gene from working as it should. AHDC1-related syndrome is also known as Xia-Gibbs syndrome.
The AHDC1 gene plays a key role in the growth of the brain.
Because the AHDC1 gene is important in the development and function of brain cells, many people who have AHDC1-related syndrome have:
- Developmental delay
- Speech delay
- Sleep apnea, a disorder in which breathing stops and starts
Do people who have AHDC1-related syndrome look different?
People who have AHDC1-related syndrome can look different. Appearance can vary and can include some but not all of these features:
- Broad forehead
- Widely spaced eyes
- Flat bridge of nose
- Thin upper lip
Research Article Summaries