Overview
CLCN4-related X-linked intellectual disability syndrome is a rare genetic condition caused by changes (mutations) in the CLCN4 gene. This gene provides instructions for making a protein called a chloride channel, which helps control the flow of electrically charged particles in and out of brain cells. When this channel does not work properly, it affects how brain cells communicate, leading to problems with learning, behavior, and development. The condition mainly affects intellectual ability and behavior. People with this syndrome often have mild to moderate intellectual disability, meaning they may need extra support with learning and daily tasks. Many also experience behavioral challenges, seizures, and difficulties with speech and language. Some individuals have features that affect their physical appearance, though these vary widely from person to person. Because this is an X-linked condition, it can affect both males and females, though males are often more severely affected. Females who carry one changed copy of the gene may have milder symptoms or, in some cases, significant difficulties as well. There is currently no cure, but supportive therapies such as speech therapy, occupational therapy, and seizure medications can help manage symptoms and improve quality of life.
Also known as:
Key symptoms:
Intellectual disability (mild to moderate difficulty with learning and thinking)Delayed speech and language developmentBehavioral problems such as aggression, anxiety, or hyperactivitySeizures (epilepsy)Autism-like behaviors or featuresDelayed motor milestones such as sitting or walking later than expectedAttention difficultiesMood swings or emotional dysregulationMild differences in facial featuresSleep problems
Clinical phenotype terms (45)— hover any for plain English
X-linked dominant
Carried on the X chromosome; a single copy can cause the condition
Infantile
Begins in infancy, roughly 1 month to 2 years old
Treatments
No FDA-approved treatments are currently listed for CLCN4-related X-linked intellectual disability syndrome.
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Specialists
View all specialists →No specialists are currently listed for CLCN4-related X-linked intellectual disability syndrome.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to CLCN4-related X-linked intellectual disability syndrome.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.What type of genetic change does my child have in the CLCN4 gene, and what does that mean for their prognosis?,Should other family members be tested for this condition?,What therapies do you recommend, and how soon should we start?,What seizure medications are most appropriate, and what are the side effects to watch for?,Are there any clinical trials or research studies we could participate in?,What school supports or educational plans should we ask for?,What signs should prompt us to seek emergency care?
Common questions about CLCN4-related X-linked intellectual disability syndrome
What is CLCN4-related X-linked intellectual disability syndrome?
CLCN4-related X-linked intellectual disability syndrome is a rare genetic condition caused by changes (mutations) in the CLCN4 gene. This gene provides instructions for making a protein called a chloride channel, which helps control the flow of electrically charged particles in and out of brain cells. When this channel does not work properly, it affects how brain cells communicate, leading to problems with learning, behavior, and development. The condition mainly affects intellectual ability and behavior. People with this syndrome often have mild to moderate intellectual disability, meaning t
How is CLCN4-related X-linked intellectual disability syndrome inherited?
CLCN4-related X-linked intellectual disability syndrome follows a x-linked dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does CLCN4-related X-linked intellectual disability syndrome typically begin?
Typical onset of CLCN4-related X-linked intellectual disability syndrome is infantile. Age of onset can vary across affected individuals.