Prader-Willi syndrome
Findings
No curated finding names Prader-Willi syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Prader-Willi syndrome is a rare genetic disorder characterized by hypothalamic-pituitary abnormalities with severe hypotonia during the neonatal period and first two years of life and the onset of hyperphagia with a risk of morbid obesity during infancy and adulthood, learning difficulties and behavioral problems or severe psychiatric problems.
Definition from the Mondo Disease Ontology (MONDO:0008300), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset · Fetal onset
HPO, annotations 2026-09-02
Features
125 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.
- Intellectual disabilityHPOHP:0001249
- 12 of 12 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 244 of 244 reported patients
- CryptorchidismHPOHP:0000028
- 118 of 130 reported patients
- Very frequent (80% to 99% of cases)
- Tube feedingHPOHP:0033454
- 216 of 244 reported patients
- ScoliosisHPOHP:0002650
- 150 of 180 reported patients
- Frequent (30% to 79% of cases)
- Self-injurious behaviorHPOHP:0100716
- 50 of 62 reported patients
Show the remaining 113
- Failure to thrive in infancyHPOHP:0001531
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Generalized hypotoniaHPOHP:0001290
- Very frequent (80% to 99% of cases) · Neonatal onset
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Hypogonadotropic hypogonadismHPOHP:0000044
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
Other names
3 names
Resolves to: Prader-Willi syndrome
- Also called
- Prader-Labhart-Willi syndromePrader-Willi-Labhart syndromeWilli-Prader syndrome