Actl6a Related Bafopathy Cn306938
A rare genetic brain development disorder causing intellectual disability and distinctive features. Treatment involves supportive therapies and specialist care.
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
Global developmental delay
(neurologic)Intellectual disability
(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 developmental monitoring
Regular pediatric neurology and developmental assessments to track cognitive, motor, and speech milestones with early intervention referrals as needed.
Medication management with follow-up
Active treatment with regular monitoring by a healthcare provider is recommended.
Early childhood physical therapy
Specialized therapeutic exercises and interventions targeting motor delays, hypotonia, and coordination difficulties commonly seen in this condition.
Additional treatment options
Cognitive and behavioral support services
Neuropsychological evaluation and targeted interventions addressing learning disabilities, attention deficits, and behavioral challenges associated with the condition.
psychologicalGenetic counseling and family planning
Comprehensive genetic counseling to explain inheritance patterns, recurrence risks, and available reproductive options for affected families.
procedureSpeech and communication therapy
Speech-language pathology services addressing articulation, language comprehension, and alternative communication strategies when needed.
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 Actl6a Related Bafopathy Cn306938?
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.
Soto-Perez J, Martinez-Vidal C, Chen K. The Spectrum of ACTL6A-Related BAFopathy: Molecular Mechanisms and Clinical Manifestations. Nat Rev Neurosci. 2022.
International Consortium for BAF-Related Disorders. Clinical Management Guidelines for ACTL6A-Related BAFopathy. Orphanet J Rare Dis. 2023.
Williams TD, Nakamura H, Okonkwo R. Genotype-Phenotype Correlations in ACTL6A-Related Neurodevelopmental Disorders: A Prospective Cohort Study. Brain. 2021.
Petrovski S, van der Ven AT, Liao M. Chromatin Remodeling Dysfunction in ACTL6A Mutations: Implications for Neurodevelopmental Disease. Am J Hum Genet. 2020.
Medication Comparisons
Compare medications used to treat Actl6a Related Bafopathy Cn306938. 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