8q12 microduplication syndrome
ORPHA:228399· ICD-10 Q92.3
Definition
The newly described 8q12 microduplication syndrome is associated with unusual and characteristic multi-organ clinical features, which include hearing loss, congenital heart defects, intellectual disability, hypotonia in infancy, and Duane anomaly.
- Prevalence
- <1 / 1 000 000
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal