22q11.2 deletion syndrome
ORPHA:567· ICD-10 D82.1
Definition
A rare chromosomal anomaly which causes a congenital malformation disorder that is typically characterized by cardiac defects, palatal anomalies, facial dysmorphism, developmental delay and immune deficiency.
- Prevalence
- 1-5 / 10 000
- Inheritance
- Autosomal dominant
- Age of onset
- All ages