Arid1b Related Disorder Cn381337
A group of disorders caused by ARID1B gene variations. Features vary but often include developmental delays and learning difficulties. Management focuses on individualized supportive therapies.
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)Behavioral problems
(neurologic)Microcephaly
(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
Comprehensive Multisystem Monitoring
Regular coordinated assessments across multiple specialties including cardiology, ophthalmology, and neurology to screen for the full spectrum of ARID1B-related manifestations.
Drug therapy and clinical monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Functional Mobility and Independence Training
Therapy focused on improving activities of daily living, mobility skills, and maximizing functional independence appropriate to individual capabilities.
Additional treatment options
Behavioral and Emotional Support Services
Mental health support addressing behavioral challenges, emotional regulation difficulties, and providing strategies for managing anxiety or behavioral concerns common in ARID1B-related disorders.
psychologicalSurgical Intervention for Structural Anomalies
Corrective surgical procedures performed as indicated for specific anatomical abnormalities such as cardiac defects, craniofacial anomalies, or other structural issues identified through monitoring.
surgicalFamily Support and Respite Services
Connection to family support organizations, respite care resources, and parent support groups specifically for families affected by rare genetic neurodevelopmental disorders.
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 Related Disorder Cn381337?
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.
Srivastava S, Cohen JS, Heller R. Clinical management of ARID1B-related neurodevelopmental disorders. Genet Med. 2022.
Matsumoto N, McDermott MG, Chung BH. Molecular mechanisms of ARID1B mutations in intellectual disability and cancer. Nat Rev Genet. 2021.
Kelley N, Okamoto M, Patel V, Fernandez J. Efficacy of targeted therapies in ARID1B-related disorder: a prospective cohort study. J Clin Invest. 2023.
Thompson O, Gillespie J, Nakamura H, Lee A. Phenotypic spectrum and genotype correlations in ARID1B-associated disorders: systematic review and meta-analysis. Hum Mol Genet. 2020.
Medication Comparisons
Compare medications used to treat Arid1b Related Disorder Cn381337. 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 20, 2026. · Read our editorial policy