Below is a summary for the KATNAL2 gene observed in research publications. This is not meant to take the place of medical advice.
What is KATNAL2 -related syndrome?
KATNAL2 -related syndrome happens when there are changes in the KATNAL2 gene. These changes can keep the gene from working as it should.
The KATNAL2 gene plays an important role in the central nervous system.
Because the KATNAL2 gene is important for the brain, some people may have:
- Developmental delay
How many people have KATNAL2 -related syndrome?
KATNAL2 -related syndrome is very rare. As of 2022, about 6 people in the world with a KATNAL2 genetic variant have been described in medical research.
Research Article Summaries