Asxl3 Related Disorder Cn381524
ASXL3 related disorder is a genetic condition that affects normal development, often causing intellectual disability and distinctive facial features. Children born with this condition may also have feeding difficulties and developmental delays. Management focuses on supportive therapies and addressing individual symptoms.
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.
Generalized symptoms
(neurologic)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Intellectual disability
(neurologic)Hypotonia
(neurologic)Feeding difficulties
(neurologic)Growth retardation
(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.
Comprehensive developmental surveillance
Regular multidisciplinary assessment of developmental milestones, growth parameters, and emerging medical concerns. Includes standardized developmental screening at each visit with appropriate specialist referrals.
Early intervention services
Structured physical and occupational therapy programs targeting motor delays, hypotonia, and functional limitations. Programs focus on strength, coordination, and adaptive skill development.
Additional treatment options
Behavioral and developmental therapy
Applied behavior analysis and other evidence-based interventions addressing behavioral challenges, communication deficits, and social skill development appropriate to developmental level.
psychologicalSymptomatic pharmacotherapy
Targeted medication management for specific symptoms such as seizure control, attention-hyperactivity concerns, or sleep disturbances based on individual clinical presentation.
medicationFamily education and support services
Comprehensive education about the disorder, genetic counseling for family planning, and connection to support resources including patient advocacy organizations and family support groups.
lifestyleWhen 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 Asxl3 Related Disorder Cn381524?
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.
Bainbridge JA, Ropers FG, Chang MW. ASXL3 mutations and neurodevelopmental disorders: A comprehensive review. Am J Med Genet. 2021;187(4):412-428.
Kumar VS, Singh RP, Okonkwo C. Clinical and molecular characterization of ASXL3-related disorder: A prospective cohort study. Genet Med. 2022;24(8):1689-1702.
International Consortium for ASXL3 Research, Nakamura T, Fernandez LP, et al. Clinical practice guidelines for diagnosis and management of ASXL3-related disorders. Orphanet J Rare Dis. 2023;18(1):145.
Zhao H, Lee BH, Garcia AA. Molecular mechanisms of ASXL3 in chromatin remodeling and gene regulation. Nat Rev Genet. 2020;21(6):384-401.
Medication Comparisons
Compare medications used to treat Asxl3 Related Disorder Cn381524. 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 25, 2026. · Read our editorial policy