DYNC1H1

Below is a summary for the DYNC1H1 gene observed in research publications. This is not meant to take the place of medical advice.

Access the Full DYNC1H1 Gene Guide

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.

Latest DYNC1H1 Report Download Report

The latest Simons Searchlight report includes updated information on your genetic community and features a special spotlight on behavioral and emotional concerns in children using results from the Child Behavior Checklist (CBCL).

Please take our surveys to contribute to this research. If you are not yet registered, consider joining Simons Searchlight to be included in future reports!

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.

Key Role

The DYNC1H1 gene plays a key role in the basic function of the cell.

Symptoms

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.

Support Resources

- Simons Searchlight Community – DYNC1H1 Facebook group
- DYNC1H1 Association – Website
- DYNC1H1 Gene Mutation Family Support Group – Facebook group
- Geisinger Developmental Brain Disorder Gene Database – DYNC1H1

GeneReviews

GeneReviews are a great resource to bring to your child’s clinicians. These publications provide a summary of current research on genetic conditions and information on ongoing care.

There is currently no GeneReviews for DYNC1H1 .

Research Article Summaries

We currently do not have any article summaries for DYNC1H1, but we add resources to our website as they become available.

The information available about DYNC1H1 is limited, and families and doctors share a critical need for more information. As we learn more from children who have this gene change, we expect our list of resources and information to grow.

Full versions of published research articles can be found on PubMed. PubMed is a National Institutes of Health (NIH) online database that is free. It has a collection of both medical and scientific research articles. A PubMed search for DYNC1H1 articles can be found here.

You can also visit the Simons Foundation’s SFARI Gene website to see information for researchers about this gene.

Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about DYNC1H1 genetic changes by taking part in our research. You can learn more about the project and sign up here.

External Research Opportunity: FaceMatch

FaceMatch is a platform that helps parents and doctors contribute to an international secure image database of both undiagnosed and diagnosed children across the globe. *This study is not affiliated with Simons Searchlight. Learn more about FaceMatch.