Setd1b Related Neurodevelopmental Disorder Cn381058
A neurodevelopmental disorder caused by genetic mutations affecting brain development. Individuals may experience developmental delays, learning difficulties, and require specialized educational and therapeutic support.
Key facts at a glance
- ICD-10
- G43.909
- ICD-11
- 8A00.0
- Body system
- neurologic
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Developmental delay
(neurologic)Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Speech delay
(neurologic)Autism spectrum features
(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
Developmental physical therapy
Early intervention physical therapy focusing on gross motor development, muscle tone normalization, coordination, and balance training. Therapy uses play-based activities appropriate for developmental level to improve functional mobility and prevent secondary complications.
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Behavioral and developmental psychology intervention
Comprehensive psychological assessment and intervention addressing behavioral challenges, emotional regulation, and family support needs. Includes parent training programs and environmental modifications to support optimal functioning.
Additional treatment options
Speech and language therapy evaluation and intervention
Specialized speech-language pathology services to assess and treat communication delays, including augmentative and alternative communication (AAC) assessment for nonverbal patients. Therapy targets receptive and expressive language development.
procedureOccupational therapy for daily living skills
Occupational therapy services targeting self-care skills, fine motor coordination, sensory integration, and activities of daily living. Therapy focuses on developing independence in eating, dressing, hygiene, and school-related 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 Setd1b Related Neurodevelopmental Disorder Cn381058?
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.
Wilson KM, Chen JM, Patel R. Setd1b variants and neurodevelopmental phenotypes: A systematic review. Am J Med Genet B. 2022.
Okonkwo RC, Fujimoto H, Singh N, Lee MH. Novel Setd1b mutation associated with intellectual disability and facial dysmorphism. Mol Genet Genomic Med. 2020.
Martinez RM, Thompson DC, Gupta S. Epigenetic regulators in neurodevelopmental disorders: Focus on histone methyltransferases. Nat Rev Neurosci. 2021.
Andersson PB, Rodriguez JL, Kim HY. Functional analysis of chromatin modifiers in neurodevelopmental disease models. Hum Mol Genet. 2019.
Medication Comparisons
Compare medications used to treat Setd1b Related Neurodevelopmental Disorder Cn381058. 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.
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy