Below is a summary for the SETD5 gene observed in research publications. This is not meant to take the place of medical advice.
What is SETD5-related syndrome?
SETD5-related syndrome happens when there are changes to the SETD5 gene. These changes can keep the gene from working as it should.
The SETD5 gene plays a key role in controlling other genes.
Many people who have SETD5-related syndrome have:
- Intellectual disability
- Language delay
- Differences in facial features
Do people who have SETD5-related syndrome look different?
People who have SETD5-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Short head, also called brachycephaly
- Large, high forehead
- Eyebrows that meet in the middle of the forehead or are full and broad
- Long, thin, tube-shaped nose
- Long, narrow, up-slanting openings of the eyelids, also called palpebral fissures
- Large, fleshy, low-set ears
Research Article Summaries