Below is a summary for the NCKAP1 gene observed in research publications. This is not meant to take the place of medical advice.
What is NCKAP1-related syndrome?
NCKAP1-related syndrome happens when there are changes in the NCKAP1 gene. These changes can keep the gene from working as it should.
The NCKAP1 gene plays an important role in the structure and organization of cells in the brain.
Because the NCKAP1 gene is important for the brain, some people may have:
- Language issues
- Motor delay
- Intellectual or learning disability
- Repetitive behaviors
- Aggressive behaviors
- Psychotic episodes
Do people who have NCKAP1-related syndrome look different?
People who have NCKAP1-related syndrome do not look different.
How many people have NCKAP1-related syndrome?
As of 2022, about 24 people in the world with NCKAP1-related syndrome have been described in medical research.
Research Article Summaries