distal trisomy 15q
MONDO:0015728Mondo
Findings
No curated finding names distal trisomy 15q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
29 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.
- ArachnodactylyHPOHP:0001166
- Very frequent (80% to 99% of cases)
- Camptodactyly of fingerHPOHP:0100490
- Very frequent (80% to 99% of cases)
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Downslanted palpebral fissuresHPOHP:0000494
- Very frequent (80% to 99% of cases)
- Downturned corners of mouthHPOHP:0002714
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Joint stiffnessHPOHP:0001387
- Very frequent (80% to 99% of cases)
- Long philtrumHPOHP:0000343
- Very frequent (80% to 99% of cases)
- MicrognathiaHPOHP:0000347
- Very frequent (80% to 99% of cases)
- Pectus excavatumHPOHP:0000767
- Very frequent (80% to 99% of cases)
- Prominent nasal bridgeHPOHP:0000426
- Very frequent (80% to 99% of cases)
Show the remaining 17
- Sloping foreheadHPOHP:0000340
- Very frequent (80% to 99% of cases)
- Abnormal cardiovascular system morphologyHPOHP:0030680
- Frequent (30% to 79% of cases)
- Abnormal female external genitalia morphologyHPOHP:0000055
- Frequent (30% to 79% of cases)
- BlepharophimosisHPOHP:0000581
- Frequent (30% to 79% of cases)
- Congenital muscular torticollisHPOHP:0005988
- Frequent (30% to 79% of cases)
- Facial asymmetryHPOHP:0000324
- Frequent (30% to 79% of cases)
Where it sits
- A kind of
Other names
5 names
Resolves to: distal trisomy 15q
- Also called
- Chromosome 15, Distal Trisomy 15qdistal duplication 15qdistal trisomy type 15qtelomeric duplication 15qtrisomy 15qter