Below is a summary for the ZNF462 gene observed in research publications. This is not meant to take the place of medical advice.
What is ZNF462-related Syndrome?
ZNF462-related syndrome happens when there are changes to the ZNF462 gene. These changes can keep the gene from working as it should.
The ZNF462 gene plays a key role in the growth of the brain.
Many people who have ZNF462-related syndrome have:
- Developmental delay
- Differences in facial features
Do people who have ZNF462-related syndrome look different?
People who have ZNF462-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Forehead: There may be a noticeable ridge at the center of the forehead, and the front of the head may appear pointed and triangular.
- Eyes: Drooping upper eyelids, arched eyebrows that meet in the center of the forehead.
- Nose: Small and upturned, with a round tip.
- Mouth: Thin upper lip.
- Ears: Uneven or large.
Research Article Summaries