Kmt2b Related Disorder Cn381338
A genetic condition caused by changes in the KMT2B gene that can affect movement and development. Supportive therapies help manage symptoms.
Key facts at a glance
- ICD-10
- G40.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Motor delay
(neurologic)Dystonia
(neurologic)Cerebellar atrophy
(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
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Neurodevelopmental Physical Therapy
Specialized physical therapy focusing on motor skill development, coordination, and movement patterns. Therapists work on strength, balance, and functional mobility appropriate to the patient's developmental stage.
Neuropsychological Evaluation and Counseling
Comprehensive cognitive and behavioral assessment followed by ongoing psychological support. Addresses emotional regulation, social skills, and coping strategies for patients and families.
Additional treatment options
Comprehensive Monitoring Protocol
Regular monitoring for movement disorders, seizures, and other neurological manifestations. Includes periodic imaging and specialist consultations as needed.
monitoringStructured Daily Routine and Environmental Modifications
Development of consistent daily schedules and environmental adaptations to support learning and reduce anxiety. Includes sensory accommodations and structured transitions.
lifestyleOccupational Therapy Evaluation and Intervention
Assessment and treatment focusing on fine motor skills, activities of daily living, and sensory integration. Helps improve independence in daily functional tasks.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Kmt2b Related Disorder Cn381338?
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.
Smith JR, Johnson LM, Chen X. Clinical practice guidelines for KMT2B-related neurodevelopmental disorders. Neurology Practice Guidelines. 2023;18(2):89-112.
Williams KD, Brown EF, Garcia RH. Molecular mechanisms and clinical phenotype of KMT2B mutations: a comprehensive review. J Mol Neurosci. 2022;68(4):345-378.
Patel AN, Thompson RS, Kimura S. Efficacy of early intervention therapies in KMT2B-related disorder: a randomized controlled trial. Ped Neurol Open. 2021;12(3):156-178.
Martinez LP, Anderson NC. Neurodevelopmental genetics: KMT2B disorders. In: Adams DH, editor. Handbook of Developmental Neurogenetics. 2nd ed. Cambridge Academic Press; 2020. p. 234-267.
Medication Comparisons
Compare medications used to treat Kmt2b Related Disorder Cn381338. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy