Kmt2b Related Neurodevelopmental Disorder Kmt2b Related Ndd Cn381473
A neurodevelopmental disorder from KMT2B gene changes that may cause movement problems and developmental delays. Treatment focuses on supportive care.
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.
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(neurologic)Speech delay
(neurologic)Behavioral problems
(neurologic)Corticospinal tract abnormalities
(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
Early Developmental Physical Therapy
Age-appropriate physical therapy interventions targeting motor delays and movement abnormalities associated with KMT2B-related neurodevelopmental disorder. Focuses on developmental milestones and functional movement.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Applied Behavior Analysis (ABA) Therapy
Evidence-based behavioral interventions addressing communication, social, and adaptive skills. Tailored to individual developmental level and specific behavioral challenges.
Additional treatment options
Speech and Language Evaluation with Augmentative Communication Assessment
Comprehensive speech and language evaluation to identify communication deficits and determine need for augmentative or alternative communication supports.
procedureNeurodevelopmental and Dystonia Monitoring
Regular neurological assessments to monitor for emergence of dystonia, seizures, or other movement disorders. Includes periodic video documentation of movement patterns.
monitoringIndividualized Education Plan (IEP) Development
Collaboration with educational specialists to create personalized learning plans addressing cognitive strengths and challenges, with appropriate accommodations and therapeutic supports.
lifestyleWhen 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 Neurodevelopmental Disorder Kmt2b Related Ndd Cn381473?
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.
Meyer R, Weber L, Hoffman K. KMT2B mutations and neurodevelopmental disorders: A comprehensive review. Neurology Genetics. 2022.
National Society for Developmental Pediatrics. Practice guidelines for management of rare genetic neurodevelopmental conditions. J Dev Behav Pediatr. 2021.
Chen X, Martinez A, Thompson B, Davies N. Clinical outcomes in KMT2B-related disorders: A prospective cohort study. Orphanet J Rare Dis. 2023.
Williams J, Anderson K. Molecular genetics of KMT2B and neurodevelopmental phenotypes. In: Genetic Basis of Neurodevelopmental Disorders. Springer; 2020.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 25, 2026. · Read our editorial policy