Below is a summary for the HNRNPK gene observed in research publications. This is not meant to take the place of medical advice.
What is Au-Kline syndrome?
Au-Kline syndrome happens when there are changes to the HNRNPK gene. These changes can keep the gene from working as it should.
The HNRNPK gene may play an important role in human development.
Because the HNRNPK gene might be important in the development and function of brain cells, many people who have Au-Kline syndrome have:
- Intellectual disability
- Development delay
- Delays or difficulty in speaking
- Heart defects
- Feeding difficulties
- A condition where the hip joint does not form properly, also called hip dysplasia
Do people who have Au-Kline syndrome look different?
People with Au-Kline syndrome may look different. Appearance can vary and can include, but are not limited to, these features:
- Lower than average muscle tone
- Underdeveloped ear shape
- Sideways curvature of the spine, also called scoliosis
- Toes that overlap
- Depression in the center of the chest
How many people have an HNRNPK genetic variant?
As of 2023, about 32 people in the world with an HNRNPK genetic variant have been included in medical research.