mosaic trisomy 15
Findings
No curated finding names mosaic trisomy 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Mosaic trisomy 15 is a rare chromosomal anomaly syndrome principally characterized by intrauterine growth restriction, congenital cardiac anomalies (incl. ventricular and atrial septal defects, patent ductus arteriosus) and craniofacial dysmorphism (incl. hypertelorism, downslanting palpebral fissures, wide nasal bridge). Patients also present brain (e.g. hypoplastic cerebellum, ventricular asymmetry), renal (e.g. small dysplastic kidneys), and/or genital (undescended testis, small penis, hypoplastic labia majora) anomalies. Digital and skin pigmentation abnormalities have also been reported.
Definition from the Mondo Disease Ontology (MONDO:0015727), read 2026-09-29. CC BY 4.0.
Features
6 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.
- Abnormality of the handHPOHP:0001155
- Very frequent (80% to 99% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Abnormality of chromosome segregationHPOHP:0002916
- Frequent (30% to 79% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Frequent (30% to 79% of cases)
- Deviation of fingerHPOHP:0004097
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: mosaic trisomy 15
- Also called
- Mosaic trisomy chromosome 15Mosaic trisomy type 15trisomy 15 mosaicism