Prader-Willi syndrome due to paternal 15q11q13 deletion
ORPHA: 98793
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 paternal 15q11q13 deletion, sourced from HPO and Orphanet clinical annotations.
Almond-shaped palpebral fissureDecreased testicular sizeObsessive-compulsive traitSpeech articulation difficultiesAnterior pituitary hypoplasiaCentral adrenal insufficiencyCentral hypothyroidismParietal cortical atrophyOccipital cortical atrophySkin-pickingPremature pubarchePremature adrenarchePerisylvian polymicrogyriaAbnormal temper tantrumsDecreased circulating gonadotropin concentrationDecreased circulating T4 concentrationSelf-injurious behaviorBulimiaSmall handOsteopeniaCryptorchidismObesityVentriculomegalyFeeding difficulties in infancyHypogonadotropic hypogonadismSmall scrotumClitoral hypoplasiaHypoplastic labia minoraStrabismusAbnormality of visionAtypical behaviorPsychosisAutismAutistic behaviorPrimary amenorrheaInfertilityDiabetes mellitusDelayed pubertyDecreased response to growth hormone stimulation testHypopigmentation of the skinHypotoniaGlobal developmental delaySpecific learning disabilityFailure to thriveShort footRecurrent respiratory infectionsModerate intellectual disabilitySleep disturbancePolyphagiaScoliosisExternal genital hypoplasiaShort statureHypopigmentation of hairIris hypopigmentationOsteoporosisSeizureMild intellectual disabilityHip dysplasiaSmall for gestational ageDecreased fetal movementGastroparesisDownturned corners of mouthObstructive sleep apneaCentral apneaBorderline intellectual disabilityPedal edemaImpaired temperature sensationDecreased circulating inhibin B concentrationPostterm pregnancyPrecocious puberty
Classification & Codes
Orphanet Code
ORPHA:98793Prader-Willi syndrome due to paternal 15q11q13 deletion
| Orphanet | ORPHA:98793 |
| Treatments | 0 drug(s) |
| Symptoms on record | 70 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO