Below is a summary for the DYRK1A gene observed in research publications. This is not meant to take the place of medical advice. Click HERE for the full gene guide, which includes more information, such as chance of having another child with this condition, or specialists to consider for people with this condition.
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What is DYRK1A-Related Syndrome?
DYRK1A-related syndrome happens when there are changes to the DYRK1A gene. These changes can keep the gene from working as it should.
The DYRK1A gene plays a key role in brain development. It is especially important for creating new brain cells and for updating connections among brain cells.
Because the DYRK1A gene is important in brain development, many people who have DYRK1A-related syndrome have:
- Intellectual disability
- Speech delay
- Motor difficulties
- Small head, also called microcephaly
- Feeding problems
- Vision problems
- Behavioral issues
Do people who have DYRK1A-related syndrome look different?
People who have DYRK1A-related syndrome may look different. Appearance can vary and can include some but not all of these features:
- Deep-set eyes that look hooded
- Narrow forehead
- Larger than average brow with high hairline
- Tube-shaped nose
- Larger than average nasal bridge
- Lower jaw set back from upper jaw
- Small chin
40% have autism and 70% have autism-like behaviors.
FEEDING and DIGESTION ISSUES
More than 90% of people who have the condition have feeding issues.
EYES and EYESIGHT
80% have vision problems.
Research Article Summaries
Previous Registry Reports