Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
ORPHA: 177904
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 deletion of 15q11q13 type 2, sourced from HPO and Orphanet clinical annotations.
Premature adrenarchePerisylvian polymicrogyriaAbnormal temper tantrumsDecreased circulating gonadotropin concentrationDecreased circulating T4 concentrationSelf-injurious behaviorSmall handOsteopeniaOsteoporosisSeizureMild intellectual disabilityGlobal developmental delayHip dysplasiaSmall for gestational ageDecreased fetal movementAbnormal facial shapeModerate intellectual disabilityGastroparesisDownturned corners of mouthObstructive sleep apneaCentral apneaBorderline intellectual disabilityPedal edemaImpaired temperature sensationDecreased circulating inhibin B concentrationPostterm pregnancyBulimiaPrecocious pubertyCryptorchidismObesityVentriculomegalyPolyphagiaFeeding difficulties in infancyHypogonadotropic hypogonadismSmall scrotumClitoral hypoplasiaHypoplastic labia minoraStrabismusAbnormality of visionAtypical behaviorPsychosisAutismAutistic behaviorPrimary amenorrheaInfertilityDiabetes mellitusDelayed pubertyDecreased response to growth hormone stimulation testHypopigmentation of the skinHypotoniaSpecific learning disabilityFailure to thriveShort footRecurrent respiratory infectionsSleep disturbanceScoliosisExternal genital hypoplasiaShort statureHypopigmentation of hairIris hypopigmentationAlmond-shaped palpebral fissureDecreased testicular sizeObsessive-compulsive traitSpeech articulation difficultiesAnterior pituitary hypoplasiaCentral adrenal insufficiencyCentral hypothyroidismParietal cortical atrophyOccipital cortical atrophySkin-pickingPremature pubarche
Classification & Codes
Orphanet Code
ORPHA:177904Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
| Orphanet | ORPHA:177904 |
| Treatments | 0 drug(s) |
| Symptoms on record | 71 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO