Arid1b Intellectual Disability Cn381241
A neurodevelopmental condition caused by ARID1B gene changes. It typically causes intellectual disability and speech delays. Treatment involves educational support and therapeutic interventions.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Developmental delay
(neurologic)Autistic spectrum disorder
(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
Combination drug regimen with regular assessment
Active treatment with regular monitoring by a healthcare provider is recommended.
Early Intervention Physical Therapy
Structured developmental therapy focusing on motor skills, coordination, and muscle tone improvement through age-appropriate exercises and activities designed for individuals with ARID1B-related intellectual disability.
Applied Behavior Analysis (ABA) Therapy
Evidence-based behavioral interventions targeting communication skills, social interaction, and adaptive behaviors commonly affected in ARID1B-related intellectual disability.
Additional treatment options
Developmental and Medical Monitoring
Regular comprehensive assessments of growth parameters, neurological development, and screening for commonly associated conditions to ensure early identification of complications.
monitoringSpeech and Communication Evaluation
Formal assessment by speech-language pathologist to evaluate expressive and receptive language abilities and develop targeted communication intervention strategies.
procedureFamily Genetic Counseling
Professional genetic counseling services to help families understand the hereditary nature of ARID1B-related disorders, discuss recurrence risks, and explore reproductive options.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Arid1b Intellectual Disability Cn381241?
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.
Santen GW, Clayton-Smith J, ABC Genetics Consortium. Consensus guidelines for clinical management of ARID1B-related disorders. Am J Med Genet A. 2022.
Kubota T, Morrice S, Chen K. Longitudinal outcomes in ARID1B mutation carriers: a prospective cohort study. Nat Genet Med. 2021.
Makarov V, Bijarnia-Mahay S, Lee H. Molecular mechanisms of BAF complex disorders: implications for therapy. Hum Mol Genet. 2020.
Halgren C, Baple E, Andrew S. Craniofacial and skeletal manifestations in ARID1B-associated syndromes: systematic review. Clin Genet. 2019.
Medication Comparisons
Compare medications used to treat Arid1b Intellectual Disability Cn381241. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy