CLCN4
The information for this summary of CLCN4-related syndrome comes from research publications. This is not meant to take the place of medical advice.
Click here for our full CLCN4 Gene Guide
The online Gene Guide includes more information about CLCN4 such as the chance of having another child with this condition, behavior and development concerns linked to CLCN4 or specialists to consider for people with this condition. Share this resource with family members or your clinical providers.
CLCN4-related syndrome is also called Raynaud-Claes syndrome. For this webpage, we will be using the name CLCN4-related syndrome to encompass the wide range of variants observed in the people identified.
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What is CLCN4-related syndrome?
CLCN4-related syndrome happens when there are changes in the CLCN4 gene. These changes can keep the gene from working as it should.
The CLCN4 gene is located on the X chromosome, which is one of the sex chromosomes. Chromosomes are structures in our cells that house our genes.
CLCN4-related syndrome usually happens in males, but females may also have the condition. This depends on the type of genetic variant found in females. A female biological CLCN4-carrier parent may have mild neurodevelopmental features.
Key Role
CLCN4 plays a key role in brain function.
Symptoms
People who have CLCN4-related disorder may have:
- Developmental delay
- Intellectual disability
- Seizures
- Behavioral issues, such as features of autism, anxiety, mood disorders, obsessive-compulsive behaviors
- Brain changes seen on magnetic resonance imaging (MRI)
- Sideways curve of the spine, also called scoliosis
- Feeding challenges
- Gastrointestinal issues
- Vision or hearing issues
- Movement issues, such as ataxia
How many people have CLCN4-related syndrome?
As of 2025, about 146 people with CLCN4-related syndrome have been identified in medical research.
Support Resources
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- Simons Searchlight Community – CLCN4 Facebook group
- Cure CLCN4 Foundation
– Cure CLCN4 – CureCLCN4.org
– Cure CLCN4 – Facebook page
– Cure CLCN4 – Facebook group
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.
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.
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.
Family Stories
We do not currently have any stories from CLCN4 families.
Click here to share your family’s story!