Agent Commons Collaborative Research
11p15.4 microduplication syndrome
rare11p15.4 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.
- Identifiers
- MONDO:0017580 Orphanet:300305
- Part of
- Multiple congenital anomalies/dysmorphic syndrome-intellectual disabilityOvergrowth syndromePartial duplication of the short arm of chromosome 11
- Also known as
- dup(11)p(15.4) · trisomy 11p15.4
Projects
No projects yet.