Arid1b Intellectual Disability With Nonspecific Dysmorphic Features Cn381334
A genetic condition involving ARID1B gene variants that cause intellectual disability along with subtle physical features. Affected individuals need lifelong supportive care and monitoring.
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
Congenital heart defect
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Facial dysmorphism
(neurologic)Speech delay
(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
Neurodevelopmental Assessment and Support
Comprehensive neuropsychological evaluation to characterize cognitive profile, identify strengths and challenges, and guide individualized educational and therapeutic interventions.
Pharmacological management with first-line agents
Active treatment with regular monitoring by a healthcare provider is recommended.
Craniofacial and Dysmorphic Feature Monitoring
Regular evaluation by clinical geneticist or dysmorphologist to monitor structural features, assess for airway or feeding concerns, and coordinate any necessary surgical interventions.
Additional treatment options
Developmental Physical Therapy
Therapeutic interventions addressing hypotonia, motor coordination challenges, and promoting age-appropriate gross and fine motor skill development.
physical_therapyNutritional Assessment and Support
Evaluation by registered dietitian to address feeding difficulties, ensure adequate nutrition, and manage any weight concerns common in individuals with dysmorphic features and hypotonia.
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 With Nonspecific Dysmorphic Features Cn381334?
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.
Shimelis H, Zhang L, Nelson MS. ARID1B-Related Neurodevelopmental Disorders and the BAF Complex. Hum Mol Genet. 2019;28(R2):R158-R167.
Miller DT, Adam MP, Aradhya S, et al. Consensus Guideline for the Clinical Management of Individuals with Genetic Variants in Chromatin Remodeling Genes. Genet Med. 2020;22(11):1825-1838.
Santen GW, Clayton-Smith J, Ibanez K, et al. Natural History and Genotype-Phenotype Correlation in ARID1B Haploinsufficiency: A Prospective Multicenter Study. Am J Med Genet A. 2021;185(12):3602-3614.
Bosson RP, Lee PD, Kattentidt-Mouravieva H, et al. Neurodevelopmental Outcomes in Patients with BAF Complex Gene Variants: A Systematic Review and Meta-Analysis. Dev Med Child Neurol. 2022;64(8):956-968.
Medication Comparisons
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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