8q12 microduplication syndrome
From BugSigDB
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 (see this term).
- Aliases
- 8q12 microduplication syndrome
- chromosome 8q12 microduplication syndrome
- Dup(8)(q12)
- dup(8)(q12)
- Trisomy 8q12
- trisomy 8q12
