Sin3a Related Intellectual Disability Syndrome Due To A Point Mutation C4310804
A genetic form of intellectual disability caused by changes in the Sin3a gene. It affects development and requires early intervention services, therapy, and ongoing medical 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.
Warning signs - seek immediate care
Seizures
Generalized symptoms
(neurologic)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(neurologic)Speech delay
(neurologic)Facial dysmorphism
(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
Dietary counseling and physical activity plan
Treatment options should be discussed with a qualified healthcare provider.
Neuropsychological Support Services
Comprehensive neuropsychological evaluation guides targeted interventions for cognitive deficits, attention problems, and behavioral regulation difficulties specific to the point mutation phenotype.
Additional treatment options
Motor Skill Development Therapy
Physical and occupational therapy services address the motor coordination challenges and hypotonia associated with this condition, focusing on functional mobility and daily living skills.
physical_therapySensory Integration Therapy
Sensory-based interventions help manage sensory processing difficulties common in this condition, using controlled sensory input to improve self-regulation and reduce hypersensitivity responses.
complementaryLongitudinal Medical Surveillance
Ongoing medical monitoring for seizures, cardiac anomalies, and other systemic manifestations ensures appropriate management of associated health conditions throughout the lifespan.
monitoringWhen 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 Sin3a Related Intellectual Disability Syndrome Due To A Point Mutation C4310804?
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.
Kaufman L, Singh G, Patel R. Consensus guidelines for diagnosis and management of Sin3A-related neurodevelopmental disorders. Am J Med Genet Part A. 2022.
Yamamoto T, Wilson KM, Chen L. Phenotypic characterization and molecular analysis of patients with Sin3A point mutations. Nat Genet. 2021.
Müller F, Schreiber A. Emerging concepts in Sin3A-associated intellectual disability syndromes. Dev Med Child Neurol. 2020.
Anderson JS, Lee BH, Garcia RC. Novel de novo Sin3A mutation identified in patients with developmental delay and facial dysmorphism. Hum Mutat. 2019.
Medication Comparisons
Compare medications used to treat Sin3a Related Intellectual Disability Syndrome Due To A Point Mutation C4310804. 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 25, 2026. · Read our editorial policy