Below is a summary for the ZBTB20 gene observed in research publications. This is not meant to take the place of medical advice.
What is ZBTB20-related syndrome?
ZBTB20-related syndrome happens when there are changes to the ZBTB20 gene. These changes can keep the gene from working as it should. Changes in the ZBTB20 gene can also lead to a syndrome called Primrose syndrome.
The ZBTB20 gene plays a key role in development.
Because the ZBTB20 gene is important in the development and function of brain cells, many people who have ZBTB20-related syndrome have:
- Large head and tall height
- Certain facial features
- Intellectual disability
- Hardening of the outer ear
Do people who have ZBTB20-related syndrome look different?
People who have ZBTB20-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Deeply set eyes: 26/32 (81 percent)
- Bulging forehead: 22/29 (76 percent)
- Drooping eyelids: 20/28 (71 percent)
- Large ears: 24/36 (67 percent)
- Large jaw: 16/28 (57 percent)
People who have ZBTB20-related syndrome often have an intellectual disability.
- Mild intellectual disability: 7/39 (18%)
- Moderate to severe intellectual disability: 33/39 (85%)
- Almost two-thirds have autism or features of autism. 20/33 (61%)
- More than one-third have self-injury behaviors. 11/26 (42%)
- More than one-third have sleep issues. 10/26 (38%)
Research Article Summaries