13q12 3 Microdeletion Syndrome C4750951
A rare genetic condition where a small piece of chromosome 13 is missing. It can cause various developmental and medical concerns. Care is supportive and tailored to the individual's needs.
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
Congenital heart defect
Structural heart abnormalities present at birth, which may include ventricular septal defects or other cardiac malformations.
Seek immediate medical attention if symptoms of heart failure develop such as rapid breathing, difficulty feeding, or bluish skin discoloration.
Seizures
Epileptic episodes that may vary in type and severity, ranging from focal to generalized seizures.
Seek emergency care for any new-onset seizure or if seizures last more than 5 minutes.
Global developmental delay
(neurologic)Delayed achievement of developmental milestones such as sitting, walking, and crawling in early childhood.
Frequency: 80-90% of patients
Growth retardation
(constitutional)Slow growth in both height and weight, often evident from infancy or early childhood.
Frequency: 70-80% of patients
Distinctive facial features
(constitutional)Characteristic facial appearance including wide-set eyes, depressed nasal bridge, and abnormal ear shape.
Frequency: 75-85% of patients
Intellectual disability
(neurologic)Reduced cognitive functioning affecting learning, problem-solving, and adaptive skills.
Frequency: 60-75% of patients
Feeding difficulties
(gastrointestinal)Problems with feeding and swallowing that may require special feeding techniques or tube feeding in severe cases.
Frequency: 40-55% of patients
Speech and language delay
(neurologic)Delayed speech development and difficulty with language expression and comprehension.
Frequency: 70-85% 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.
Ophthalmologic and auditory screening
Regular eye examinations and hearing assessments as 13q12-3 microdeletion may be associated with visual and auditory impairments requiring early intervention.
Developmental rehabilitation program
Multidisciplinary rehabilitation approach addressing motor delays, sensory integration needs, and promoting functional independence in daily activities.
Additional treatment options
Cognitive and learning support
Educational interventions including speech therapy, cognitive remediation, and academic accommodations to maximize learning potential.
psychologicalFamily support and respite services
Comprehensive family support including counseling, support groups, and respite care to address caregiver stress and promote family well-being.
lifestyleGenetic family planning consultation
Preconception and prenatal genetic counseling services for affected individuals and family members to discuss recurrence risks and reproductive options.
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 13q12 3 Microdeletion Syndrome C4750951?
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.
Ballarati L, et al. 13q12.3 microdeletion: a novel case with an isolated sensorineural hearing loss. European Journal of Medical Genetics. 2007.
OMIM #613609. 13q12.3 Microdeletion Syndrome. Online Mendelian Inheritance in Man.
Laufer B, et al. A novel 13q12.3 microdeletion with novel phenotypic features: a case report and review of the literature. Molecular Cytogenetics. 2020.
Mendoza-Londono R, et al. A novel 13q12.3 microdeletion syndrome in a child with hearing loss and global developmental delay. American Journal of Medical Genetics Part A. 2009.
DECIPHER Database. 13q12.3 Microdeletion. Wellcome Trust Sanger Institute.
Quarless S, et al. Molecular characterization of 13q12.3 microdeletions: phenotypic correlations and novel candidate genes. Human Genetics. 2016.
GeneReviews: 13q12.3 Microdeletion Syndrome. University of Washington, Seattle.
Redon R, et al. Comparative genome hybridization analysis of 13q12.3 microdeletions in developmental disorders. Human Molecular Genetics. 2006.
ClinicalTrials.gov. Genetic Studies of 13q12.3 Microdeletion Syndrome. NCT Identifier.
American College of Medical Genetics and Genomics. Clinical Genetics Guidelines for Chromosomal Microdeletions. ACMG Standards and Guidelines. 2020.
Medication Comparisons
Compare medications used to treat 13q12 3 Microdeletion Syndrome C4750951. 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