Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
ORPHA: 98754
Overview
human disease
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15, sourced from HPO and Orphanet clinical annotations.
Hypoplastic labia minoraStrabismusAtypical behaviorPsychosisAutismAutistic behaviorPrimary amenorrheaInfertilityDelayed pubertyDecreased response to growth hormone stimulation testHypotoniaMild intellectual disabilitySpecific learning disabilityFailure to thriveShort footRecurrent respiratory infectionsPolyphagiaScoliosisExternal genital hypoplasiaShort statureBorderline intellectual disabilityDecreased testicular sizeAnterior pituitary hypoplasiaCentral adrenal insufficiencyParietal cortical atrophyOccipital cortical atrophyPerisylvian polymicrogyriaAbnormal temper tantrumsDecreased circulating gonadotropin concentrationPostterm pregnancySmall handDiabetes mellitusOsteopeniaOsteoporosisSeizureGlobal developmental delayHip dysplasiaSmall for gestational ageDecreased fetal movementSleep disturbanceGastroparesisDownturned corners of mouthObstructive sleep apneaCentral apneaAlmond-shaped palpebral fissurePedal edemaImpaired temperature sensationCentral hypothyroidismSkin-pickingPremature pubarchePremature adrenarcheDecreased circulating inhibin B concentrationDecreased circulating T4 concentrationSelf-injurious behaviorBulimiaPrecocious pubertyHypopigmentation of the skinModerate intellectual disabilityHypopigmentation of hairIris hypopigmentationCryptorchidismObesityVentriculomegalyFeeding difficulties in infancyHypogonadotropic hypogonadismSmall scrotumClitoral hypoplasia
Classification & Codes
Orphanet Code
ORPHA:98754Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
| Orphanet | ORPHA:98754 |
| Treatments | 0 drug(s) |
| Symptoms on record | 67 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO