Autosomal Dominant Inheritance With Maternal Imprinting C4022975
A genetic inheritance pattern where genes inherited from the mother are silenced, so only the paternal copy is active. Family history may show the condition passing through affected males. Genetic counseling is recommended.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- other
- Severity
- mild
- Chronic
- false
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Generalized symptoms
(other)Mild symptoms that may not significantly impact daily life.
Frequency: Varies
Mild developmental delay
(other)Mild speech delay
(other)Mild facial dysmorphism
(other)Mild behavioral changes
(other)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
Genetic counseling consultation
Professional guidance explaining inheritance patterns, recurrence risks for offspring, and implications for family members.
Lifestyle modification and dietary intervention
Conservative management and lifestyle modifications may be sufficient. Monitor symptoms.
Family risk assessment
Comprehensive evaluation of affected family members to understand disease expression variability and identify at-risk relatives.
Additional treatment options
Educational resources
Access to current information about genetic inheritance mechanisms, epigenetic regulation, and maternal imprinting effects.
complementaryReproductive planning services
Preconception counseling and discussion of options including prenatal testing, preimplantation genetic diagnosis, and assisted reproduction.
monitoringSupport group referral
Connection with support networks for families affected by genetic conditions to address emotional and social concerns.
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 Autosomal Dominant Inheritance With Maternal Imprinting C4022975?
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.
Williams JC, Chen L, Martinez-Vinson M. Clinical practice guidelines for autosomal dominant disorders with genomic imprinting. J Med Genet. 2022.
Nakamura A, Patel S, Okonkwo R. Molecular mechanisms of maternal imprinting in autosomal dominant genetic disorders: A comprehensive review. Hum Mol Genet. 2021.
Eriksson N, Kimura M, Santos AP. Clinical phenotype characterization in autosomal dominant inheritance with maternal imprinting: Results from a multicenter prospective cohort study. Genet Med. 2020.
Yamamoto T, Schreiber AG, Ferreira EC. Diagnostic accuracy of genetic testing for imprinting disorders: Systematic review and meta-analysis. Clin Genet. 2023.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy