19p13 12 Microdeletion Syndrome C4304579
A rare chromosomal disorder from deletion of genetic material on chromosome 19. Affected individuals may have developmental delays, learning difficulties, and neurological features. Treatment is individualized.
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
Epileptic seizures that may vary in type, including focal, generalized, or infantile spasms.
Seek emergency care for prolonged seizures lasting more than 5 minutes or if seizures occur without known cause.
Congenital heart defects
Structural heart abnormalities such as atrial septal defect, ventricular septal defect, or patent ductus arteriosus.
Cardiac evaluation with echocardiogram is essential; seek immediate care for symptoms of heart failure like rapid breathing or poor feeding.
Developmental delay
(constitutional)Delayed attainment of developmental milestones such as sitting, crawling, and walking compared to typical peers.
Frequency: 80-90% of patients
Intellectual disability
(neurologic)Range from mild to moderate cognitive impairment affecting learning, problem-solving, and adaptive functioning.
Frequency: 75-85% of patients
Speech and language delay
(constitutional)Delayed onset of speech and language development, often with expressive language more affected than receptive language.
Frequency: 80-90% of patients
Hypotonia
(musculoskeletal)Reduced muscle tone presenting as floppiness in infancy, which may improve with developmental age.
Frequency: 40-60% of patients
Dysmorphic facial features
(craniofacial)Subtle distinctive facial characteristics including broad forehead, deep-set eyes, and abnormal ear placement.
Frequency: 60-75% of patients
Hearing loss
(sensory)Sensorineural or conductive hearing impairment that may be present at birth or develop early in childhood.
Frequency: 15-25% of patients
Vision problems
(sensory)Refractive errors, strabismus, or other visual impairments requiring ophthalmologic evaluation.
Frequency: 10-20% of patients
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
Exercise prescription and weight management
Treatment options should be discussed with a qualified healthcare provider.
Symptomatic Pharmaceutical Management
Targeted medication therapy for specific symptoms such as seizure management, attention difficulties, or mood regulation as they present in affected individuals.
When 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 19p13 12 Microdeletion Syndrome C4304579?
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.
McKusick VA. Online Mendelian Inheritance in Man (OMIM). 19p13.12 microdeletion syndrome. OMIM #614190.
Miller DT, Adam MP, Aradhya S, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. American Journal of Human Genetics.
Lupski JR. Structural variation and the genetics of neurodevelopmental disorders. Nature Reviews Genetics.
Rosenfeld JA, Coe BP, Eichler EE, et al. Estimates of penetrance for pathogenic variants that cause developmental delay and autism spectrum disorders. Genetics in Medicine.
Stankiewicz P, Lupski JR. Structural variation in the human genome. Nature Reviews Genetics.
Cooper GM, Coe BP, Girirajan S, et al. A copy number variation morbidity map of developmental delay. Nature Genetics.
Watson CT, Sharp AJ. The genetics of microdeletion syndromes. Human Molecular Genetics.
Tammimies K, Marshall CR, Walker S, et al. Molecular diagnostic yield of chromosomal microarray analysis and whole-exome sequencing in children with autism spectrum disorder. JAMA.
Medication Comparisons
Compare medications used to treat 19p13 12 Microdeletion Syndrome C4304579. 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.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy