Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
MONDO:0020298Mondo
Findings
No curated finding names Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
67 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.
- CryptorchidismHPOHP:0000028
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- ObesityHPOHP:0001513
- Very frequent (80% to 99% of cases)
- VentriculomegalyHPOHP:0002119
- Very frequent (80% to 99% of cases)
- Abnormal temper tantrumsHPOHP:0025160
- Frequent (30% to 79% of cases)
- Anterior pituitary hypoplasiaHPOHP:0010627
- Frequent (30% to 79% of cases)
- Atypical behaviorHPOHP:0000708
- Frequent (30% to 79% of cases)
- AutismHPOHP:0000717
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
- Frequent (30% to 79% of cases)
- Borderline intellectual disabilityHPOHP:0006889
- Frequent (30% to 79% of cases)
- Central adrenal insufficiencyHPOHP:0011734
- Frequent (30% to 79% of cases)
- Clitoral hypoplasiaHPOHP:0000060
- Frequent (30% to 79% of cases)
Show the remaining 55
- Decreased circulating gonadotropin concentrationHPOHP:0030339
- Frequent (30% to 79% of cases)
- Decreased response to growth hormone stimulation testHPOHP:0000824
- Frequent (30% to 79% of cases)
- Decreased testicular sizeHPOHP:0008734
- Frequent (30% to 79% of cases)
- Delayed pubertyHPOHP:0000823
- Frequent (30% to 79% of cases)
- External genital hypoplasiaHPOHP:0003241
- Frequent (30% to 79% of cases)
- Failure to thriveHPOHP:0001508
Where it sits
Other names
2 names
Resolves to: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
- Also called
- Prader-Willi syndrome due to maternal uniparental disomy of chromosome type 15UPD(15)mat