11p15.4 microduplication syndrome
From BugSigDB
11p15.4 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by obesity, global developmental delay and intellectual disability, facial dysmorphism (synophrys, high-arched eyebrows, large posteriorly rotated ears, upturned nose, long smooth philtrum, overbite and high palate), large hands and limb hypotonia. Additional features include seizures and behavioral abnormalities.
- Aliases
- 11p15.4 microduplication syndrome
- Dup(11)p(15.4)
- dup(11)p(15.4)
- Trisomy 11p15.4
- trisomy 11p15.4
