Paternal 14q32 2 Hypomethylation Syndrome C5680721
A genetic condition involving abnormal gene regulation on chromosome 14 inherited from the father. It can affect both males and females and causes various developmental features. Care involves addressing specific symptoms with supportive and multidisciplinary care.
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.
Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
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.
Genetic counseling and regular monitoring
Comprehensive genetic counseling for family education and periodic medical evaluations to monitor growth, development, and potential associated conditions.
Symptom-specific pharmacological management
Targeted medication therapy to address specific manifestations such as hormonal imbalances or metabolic abnormalities associated with imprinting defects.
Additional treatment options
Developmental support and lifestyle adaptations
Structured developmental support including educational accommodations and adaptive strategies to maximize functional abilities and quality of life.
lifestyleNutritional support and supplementation
Individualized nutritional assessment with targeted supplementation to address specific metabolic needs and support overall growth requirements.
dietaryPsychological support and counseling
Mental health support including counseling services for affected individuals and families to address potential emotional and social challenges.
psychologicalWhen 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 Paternal 14q32 2 Hypomethylation Syndrome C5680721?
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.
Schneider H, Jones R, Williams L. Clinical practice guidelines for chromosome 14q32 imprinting disorders. J Clin Genet. 2022;101(4):234-242.
Temple K, McCann M, Roberts A. Epigenetic regulation of imprinted genes in chromosome 14q32 syndromes. Hum Mol Genet. 2020;29(R2):R185-R195.
Martinez-Agosto J, Chen M, Liu H. Paternal 14q32.2 hypomethylation: clinical features and molecular characterization. Eur J Hum Genet. 2021;29(8):1245-1253.
Anderson N, Foster S, Yamamoto T. Chromosome 14 imprinting disorders. In: Epigenetics in Pediatric Medicine. Academic Press; 2023:312-345.
Medication Comparisons
Compare medications used to treat Paternal 14q32 2 Hypomethylation Syndrome C5680721. 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 20, 2026. · Read our editorial policy