11p15.4 microduplication syndrome
Findings
No curated finding names 11p15.4 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0017580), read 2026-09-29. CC BY 4.0.
Features
18 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Aggressive behaviorHPOHP:0000718
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Anteverted nares
Show the remaining 6
- MacrotiaHPOHP:0000400
- Occasional (5% to 29% of cases)
- ObesityHPOHP:0001513
- Occasional (5% to 29% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Occasional (5% to 29% of cases)
- SeizureHPOHP:0001250
- Occasional (5% to 29% of cases)
- Smooth philtrumHPOHP:0000319
- Occasional (5% to 29% of cases)
- SynophrysHPOHP:0000664
- Occasional (5% to 29% of cases)
Where it sits
Other names
2 names
Resolves to: 11p15.4 microduplication syndrome
- Also called
- dup(11)p(15.4)trisomy 11p15.4