Living with Intellectual disability, X-linked 49
A rare X-linked genetic condition (CLCN4-related) with intellectual disability, epilepsy, and behavior differences.
Understanding Intellectual disability, X-linked 49
Symptoms include epilepsy, intellectual disability, and behavior differences such as autism, mood disorders, obsessive-compulsive behavior, and aggression. Neurological symptoms may continue to worsen, with movement problems and muscle stiffness. Many females with one copy of the change have few or no symptoms, but some may be severely affected.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Intellectual disability, moderate to severe
- Global developmental delay
- Seizures
- Behavior differences
- Changes in white matter on brain scans
- Muscle stiffness (spasticity)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in CLCN4 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Simons Searchlight
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the CLCN4 gene cause this condition. It is inherited in an X-linked pattern, meaning the gene is on the X chromosome.
Also known as: chloride voltage-gated channel 4-related x-linked intellectual disability syndrome; clcn4-related x-linked intellectual disability syndrome; intellectual disability, x-linked 15; mrx49; mrxsrc; raynaud claes syndrome
Patient organizations
- Simons SearchlightIntellectual disability, X-linked 49 · United States
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