The information for this summary of DYNC1H1-related syndrome comes from research publications. This is not meant to take the place of medical advice.

Click here for our 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.

DYNC1H1-related syndrome is also called Charcot-Marie-Tooth disease, Complex cortical dysplasia with other brain malformations, or Spinal muscular atrophy with lower extremity predominance. For this guide, we will be using the name DYNC1H1-related syndrome to encompass the wide range of variants observed in the people identified.

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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 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
  • Autism
  • Seizures
  • Eye issues

People who have DYNC1H1-related syndrome have different types of gene changes. This can affect which symptoms they have.

How many people have DYNC1H1-related syndrome?

As of 2024, at least 129 people with DYNC1H1-related syndrome have been described in medical research, whereas at least 187 people with DYNC1H1-related syndrome have been identified in the medical literature. The first case of DYNC1H1-related syndrome was described in 2011.


Support Resources



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.


Family Stories

We do not currently have any stories from DYNC1H1 families.

Click here to share your family’s story!