Prader-Willi syndrome due to imprinting mutation
MONDO:0015786Mondo
Findings
No curated finding names Prader-Willi syndrome due to imprinting mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
18 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.
- Abnormal facial shapeHPOHP:0001999
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- Decreased fetal movementHPOHP:0001558
- Frequent (30% to 79% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Frequent (30% to 79% of cases)
- Global developmental delayHPOHP:0001263
- Frequent (30% to 79% of cases)
- Neonatal hypotoniaHPOHP:0001319
- Frequent (30% to 79% of cases)
- ObesityHPOHP:0001513
- Frequent (30% to 79% of cases)
- PolyphagiaHPOHP:0002591
- Frequent (30% to 79% of cases)
- Short footHPOHP:0001773
- Frequent (30% to 79% of cases)
- Short statureHPOHP:0004322
- Frequent (30% to 79% of cases)
- Small handHPOHP:0200055
- Frequent (30% to 79% of cases)
- Abnormal ulnar metaphysis morphologyHPOHP:0004039
- Occasional (5% to 29% of cases)
Show the remaining 6
- Narrow palmHPOHP:0004283
- Occasional (5% to 29% of cases)
- External genital hypoplasiaHPOHP:0003241
- Very rare (1% to 4% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
- Very rare (1% to 4% of cases)
- Hypopigmentation of hairHPOHP:0005599
- Very rare (1% to 4% of cases)
- Hypopigmentation of the skinHPOHP:0001010
- Very rare (1% to 4% of cases)
- Iris hypopigmentationHPOHP:0007730
- Very rare (1% to 4% of cases)
Where it sits
- A kind of