mosaic trisomy 12
Findings
No curated finding names mosaic trisomy 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mosaic trisomy 12 is a rare chromosomal anomaly syndrome, with a highly variable phenotype, principally characterized by developmental or growth delay, short stature, craniofacial dysmorphism (e.g. turricephaly, tall forehead, downslanting palpebral fissures, posteriorly rotated and low set ears, narrow palate), congenital heart defects (e.g. atrial septal defect, patent ductus arteriosus), hypotonia, and pigmentary dysplasia. Scoliosis, hearing loss, facial/body asymmetry, and intellectual disability have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0015718), read 2026-09-29. CC BY 4.0.
Features
19 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.
- EpicanthusHPOHP:0000286
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- Frequent (30% to 79% of cases)
- Posteriorly rotated earsHPOHP:0000358
- Frequent (30% to 79% of cases)
- Wide nasal bridgeHPOHP:0000431
- Frequent (30% to 79% of cases)
- Abnormal heart morphologyHPO
Show the remaining 7
- Linear Hyperpigmentation along Blaschko's linesHPOHP:6000010
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
- Occasional (5% to 29% of cases)
- PolyhydramniosHPOHP:0001561
- Occasional (5% to 29% of cases)
- PtosisHPOHP:0000508
- Occasional (5% to 29% of cases)
- ScoliosisHPOHP:0002650
- Occasional (5% to 29% of cases)
- Short neckHPOHP:0000470
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: mosaic trisomy 12
- Also called
- Mosaic trisomy chromosome 12Mosaic trisomy type 12trisomy 12 mosaicism