chromosome 22q11.2 microduplication syndrome
Findings
No curated finding names chromosome 22q11.2 microduplication syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The newly described 22q11.2 microduplication syndrome (dup22q11 syndrome) is the association of a broad clinical spectrum and a duplication of the region that is deleted in patients with DiGeorge or velocardiofacial syndrome (DG/VCFS), establishing a complementary duplication syndrome.
Definition from the Mondo Disease Ontology (MONDO:0012020), read 2026-09-29. CC BY 4.0.
Features
41 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 speech patternHPOHP:0002167
- Frequent (30% to 79% of cases)
- Abnormality of the pharynxHPOHP:0000600
- Frequent (30% to 79% of cases)
- Cleft palateHPOHP:0000175
- Frequent (30% to 79% of cases)
- Delayed speech and language developmentHPOHP:0000750
- Frequent (30% to 79% of cases)
- Depressed nasal ridgeHPOHP:0000457
- Frequent (30% to 79% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Frequent (30% to 79% of cases)
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- High foreheadHPOHP:0000348
- Frequent (30% to 79% of cases)
- Hypernasal speechHPOHP:0001611
- Frequent (30% to 79% of cases)
- HypertelorismHPOHP:0000316
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Show the remaining 29
- Intellectual disabilityHPOHP:0001249
- Frequent (30% to 79% of cases)
- Midface retrusionHPOHP:0011800
- Frequent (30% to 79% of cases)
- Narrow faceHPOHP:0000275
- Frequent (30% to 79% of cases)
- Abnormality of immune system physiologyHPOHP:0010978
- Occasional (5% to 29% of cases)
- Anterior creases of earlobeHPOHP:0009908
- Occasional (5% to 29% of cases)
- AnxietyHPOHP:0000739
- Occasional (5% to 29% of cases)
Where it sits
- Narrower terms (1)
Other names
6 names
Resolves to: chromosome 22q11.2 microduplication syndrome
- Also called
- 22q11 duplication syndrome22q11.2 microduplication syndromechromosome 22q11.2 microduplication syndrome, isolated casesdup(22)(q11)Duplication 22q11.2trisomy 22q11.2