Distal 22q11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the long arm of chromosome 22, with a highly variable phenotype principally c...
Comprehensive, easy-to-understand information about this condition
How we create this content →Connect with organizations supporting the distal 22q11.2 microduplication syndrome community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Connect with organizations supporting the distal 22q11.2 microduplication syndrome community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Connect with organizations supporting the distal 22q11.2 microduplication syndrome community
Helpful links for rare disease information and support
Questions that may be helpful when speaking with your healthcare team
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Always consult with qualified healthcare providers for medical guidance.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.