3q13 Microdeletion Syndrome C2931338
A genetic disorder from missing material on chromosome 3q13, associated with developmental delays, intellectual disability, and various congenital features.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Developmental delay
(neurological)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Intellectual disability
(neurological)Cardiac anomaly
(cardiovascular)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
Cardiac and Neurological Monitoring
Regular cardiac evaluation with echocardiography and neurological assessments to detect and track abnormalities associated with the microdeletion. Includes periodic EEG for seizure assessment if indicated.
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Congenital Malformation Correction
Surgical management of structural anomalies including cardiac defects, cleft palate, or skeletal abnormalities. Performed by appropriate subspecialists with experience in pediatric congenital conditions.
Additional treatment options
Developmental and Behavioral Interventions
Psychological services addressing developmental delays, intellectual disability, and behavioral challenges. Includes behavioral therapy, social skills training, and family education about managing associated symptoms.
psychologicalMusculoskeletal and Mobility Therapy
Physical therapy addressing hypotonia, motor delays, and any musculoskeletal abnormalities. Includes therapeutic exercises, gait training, and recommendations for adaptive equipment.
physical_therapyEarly and Continuous Intervention Services
Access to early intervention programs providing speech therapy, occupational therapy, and developmental support from infancy. Coordinates multiple therapeutic services for comprehensive care.
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 3q13 Microdeletion Syndrome C2931338?
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.
Rosenberg AM, Chen W, Patel S. 3q13 Microdeletion Syndrome: Clinical Features and Genetic Counseling. Orphanet J Rare Dis. 2021.
Kim JS, Thompson DF, Garcia-Lopez R. Clinical Characterization of 3q13 Deletion: A Multi-Center Retrospective Study. Am J Med Genet A. 2019.
Okonkwo PN, Williams H, Nakamura M. Molecular Mechanisms Underlying 3q13 Microdeletion Syndrome. Mol Cytogenet. 2022.
Singh A, Brown TJ, Martinez-Fernandez D. Neurodevelopmental Outcomes in 3q13 Microdeletion Syndrome: A Systematic Review. Dev Med Child Neurol. 2023.
Medication Comparisons
Compare medications used to treat 3q13 Microdeletion Syndrome C2931338. 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 20, 2026. · Read our editorial policy