distal tetrasomy 15q
MONDO:0013918Mondo
Findings
No curated finding names distal tetrasomy 15q yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
48 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.
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- High palateHPOHP:0000218
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- ArachnodactylyHPOHP:0001166
- 10 of 12 reported patients
- Occasional (5% to 29% of cases)
- Abnormal facial shapeHPOHP:0001999
- Very frequent (80% to 99% of cases)
- Growth abnormalityHPOHP:0001507
- Very frequent (80% to 99% of cases)
- MicroretrognathiaHPOHP:0000308
- 8 of 11 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 8 of 12 reported patients
- HypertelorismHPOHP:0000316
- 8 of 12 reported patients
- Frequent (30% to 79% of cases)
- Abnormal skull morphologyHPOHP:0000929
- Frequent (30% to 79% of cases)
- Abnormality of the kidneyHPOHP:0000077
- Frequent (30% to 79% of cases)
- Birth length greater than 97th percentileHPOHP:0003517
- Frequent (30% to 79% of cases)
Show the remaining 36
- CraniosynostosisHPOHP:0001363
- Frequent (30% to 79% of cases)
- HydronephrosisHPOHP:0000126
- 4 of 9 reported patients
- Frequent (30% to 79% of cases)
- Large for gestational ageHPOHP:0001520
- Frequent (30% to 79% of cases)
- Low-set earsHPOHP:0000369
- 7 of 12 reported patients
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- Frequent (30% to 79% of cases)
- RetrognathiaHPOHP:0000278
Where it sits
- A kind of
Other names
4 names
Resolves to: distal tetrasomy 15q
- Also called
- distal tetrasomy type 15qtetrasomy 15(q25-qter)tetrasomy 15q26tetrasomy type 15Q26