CLCN4

Learn more about CLCN4 and connect with other Simons Searchlight families with the resources below.

What is CLCN4 -related disorder?

CLCN4 -related disorder happens when there are changes to the CLCN4 gene. These changes can keep the gene from working as it should. The CLCN4 gene is found on the X chromosome, one of the body’s 46 chromosomes. Chromosomes are structures in our cells that house our genes.

CLCN4 -related disorder is also called Raynaud-Claes syndrome.

Key Role

CLCN4 plays a key role in brain function.

Symptoms

People who have CLCN4 -related disorder may have:

  • Intellectual disability
  • Seizures
  • Behavior issues such as features of autism, mood disorders, obsessive-compulsive behaviors

Do people who have CLCN4 -related disorder look different?

Younger children and females who have CLCN4 -related disorder usually do not look different, but older males may look a bit different. Older males may have some but not all of these features:

  • Long face with straight nose
  • Pointed chin
  • Flat midface

 

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Support Resources

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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.

  • Here is the GeneReview for CLCN4.
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Research Article Summaries

We currently do not have any article summaries for CLCN4, but we add resources to our website as they become available.

The information available about CLCN4 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 CLCN4 articles can be found here.

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

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Research Opportunities

Simons Searchlight

Help the Simons Searchlight team learn more about CLCN4 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.

External Research Opportunity: Speech and Language in individuals with CLCN4-related neurodevelopmental disorder

This study hopes to improve the understanding of speech and language in CLCN4-related neurodevelopmental disorder, they hope to improve prognoses, better identify those in need of support and develop more targeted strategies. *This study is not affiliated with Simons Searchlight. Learn more about this study.

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Family Stories

We do not currently have any stories from CLCN4  families.

Click here to share your family’s story!