22q11.2 duplication syndrome
ORPHA:1727· ICD-10 Q92.3
Definition
A rare chromosomal anomaly characterized by an extremely variable clinical phenotype and may include heart defects, urogenital abnormalities, velopharyngeal insufficiency with or without cleft palate, and ranging from multiple defects to mild learning difficulties with some individuals being essentially normal.
- Prevalence
- Unknown
- Inheritance
- Autosomal dominant
- Age of onset
- All ages