8q12 microduplication syndrome
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.
MONDO:0016959
partial duplication of the long arm of chromosome 8
is_a
chromosome 8q12 microduplication syndrome
related
dup(8)(q12)
exact
trisomy 8q12
exact