Below is a summary for the DYNC1H1 gene observed in research publications. This is not meant to take the place of medical advice.
The online Gene Guide includes more information about DYNC1H1 such as the chance of having another child with this condition, behavior and development concerns linked to DYNC1H1 -related syndrome or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
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View all reports below by clicking on “Previous Registry Reports” at the bottom of this page.
What is DYNC1H1 -related syndrome?
DYNC1H1 -related syndrome happens when there are changes to the DYNC1H1 gene. These changes can keep the gene from working as it should.
The DYNC1H1 gene plays a key role in the basic function of the cell.
Symptoms can vary widely. Because the DYNC1H1 gene is important in the development and function of brain cells, many people who have DYNC1H1 -related syndrome have:
- Neuromuscular issues
- Intellectual disability
People who have DYNC1H1 -related syndrome have different types of gene changes. This can affect which symptoms they have.
Research Article Summaries
Previous Registry Reports