Below is a summary for the CSNK2A1 gene observed in research publications. This is not meant to take the place of medical advice.
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What is CSNK2A1-related syndrome?
CSNK2A1-related syndrome happens when there are changes to the CSNK2A1 gene. These changes can keep the gene from working as it should. CSNK2A1-related syndrome is also called Okur-Chung neurodevelopmental syndrome.
The CSNK2A1 gene plays different roles in the body, including helping to control the birth of new cells and helping to control the day to night cycle of cells.
Because the CSNK2A1 gene is important in the development and function of brain cells, many people who have CSNK2A1-related syndrome have:
- Physical changes
- Intellectual disability
- Other developmental issues
Do people who have CSNK2A1-related syndrome look different?
People who have CSNK2A1-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Short height
- Smaller than average head size, also called microcephaly
- Round face
- Arched eyebrows
- A fold of skin from the upper eyelid, also called epicanthic folds
- Low set ears and changes in the ear folds
- Wide nasal bridge
- Smaller than average jaw, also called micrognathia
Research Article Summaries