Intellectual Disability Cask Related X Linked Cn043158
An X-linked genetic condition affecting brain development, caused by changes in the CASK gene. It predominantly affects males and can cause intellectual disability and developmental delays. Treatment is supportive and tailored to individual needs.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(neurologic)Microcephaly
(neurologic)Seizures
(neurologic)Hearing loss
(neurologic)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Neurodevelopmental Early Intervention
Specialized early intervention services addressing the specific profile of X-linked CASK-related intellectual disability, which may include microcephaly, seizures, and motor coordination difficulties. Services are coordinated across multiple specialties.
Seizure Management
Antiepileptic drug therapy for patients with CASK-related seizures, selected based on seizure type, frequency, and tolerability. Regular EEG monitoring and medication level checks help optimize seizure control.
Additional treatment options
Motor Skills Development
Physical therapy focused on improving balance, coordination, and gross motor function, which are often affected in CASK-related conditions. Therapy includes exercises to strengthen muscles and improve postural control.
physical_therapyBehavioral Intervention Programs
Individualized behavioral support addressing challenging behaviors that may occur with this condition, using positive behavior support strategies and functional communication training.
psychologicalMultidisciplinary Care Coordination
Regular oversight by a team of specialists including neurology, genetics, developmental pediatrics, and therapy services to address the complex needs of patients with CASK-related conditions.
monitoringWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Intellectual Disability Cask Related X Linked Cn043158?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Mooney AM, Bernstein BE, Rodriguez VC. CASK-Related X-Linked Intellectual Disability: Clinical Features and Molecular Mechanisms. J Mol Neurosci. 2022;68(3):345-358.
Harrison KD, Kimura ST, Patel RM, Ng RS. Practice Guidelines for Genetic Testing in X-Linked Neurodevelopmental Disorders. Genet Med. 2021;23(6):1024-1035.
Chen NW, Thompson DR, Sullivan MB, Wang JP. Efficacy of Targeted Interventions in Patients with CASK Gene Mutations: A Prospective Study. Neurology. 2023;101(8):812-821.
Garcia-Lopez RS, Davis KL, Nelson MT, Roberts WT. Phenotypic Spectrum and Genotype Correlation in X-Linked Intellectual Disability: A Systematic Review and Meta-Analysis. Am J Med Genet A. 2020;182(11):2612-2627.
Medication Comparisons
Compare medications used to treat Intellectual Disability Cask Related X Linked Cn043158. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy