mosaic trisomy 1
MONDO:0015706Mondo
Findings
No curated finding names mosaic trisomy 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
60 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.
- 2-3 finger cutaneous syndactylyHPOHP:0001233
- Occasional (5% to 29% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Occasional (5% to 29% of cases)
- Absent distal interphalangeal creasesHPOHP:0001032
- Occasional (5% to 29% of cases)
- Agenesis of corpus callosumHPOHP:0001274
- Occasional (5% to 29% of cases)
- ArachnodactylyHPOHP:0001166
- Occasional (5% to 29% of cases)
- Broad 2nd toeHPOHP:0100040
- Occasional (5% to 29% of cases)
- Broad toeHPOHP:0001837
- Occasional (5% to 29% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Occasional (5% to 29% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Occasional (5% to 29% of cases)
- Cerebellar vermis hypoplasiaHPOHP:0001320
- Occasional (5% to 29% of cases)
- Cleft palateHPOHP:0000175
- Occasional (5% to 29% of cases)
- Coarctation of aortaHPOHP:0001680
- Occasional (5% to 29% of cases)
Show the remaining 48
- Coarse facial featuresHPOHP:0000280
- Occasional (5% to 29% of cases)
- Complete duplication of thumb phalanxHPOHP:0009943
- Occasional (5% to 29% of cases)
- Congenital bilateral ptosisHPOHP:0007911
- Occasional (5% to 29% of cases)
- Congenital diaphragmatic herniaHPOHP:0000776
- Occasional (5% to 29% of cases)
- Depressed nasal bridgeHPOHP:0005280
- Occasional (5% to 29% of cases)
- Deviation of the 5th toeHPOHP:0010344
- Occasional (5% to 29% of cases)
Where it sits
- A kind of
Other names
3 names
Resolves to: mosaic trisomy 1
- Also called
- Mosaic trisomy chromosome 1Mosaic trisomy type 1trisomy 1 mosaicism