Prader-Willi syndrome due to point mutation
ORPHA: 398069
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 point mutation, sourced from HPO and Orphanet clinical annotations.
CryptorchidismInfertilityIntellectual disabilityMotor delayNeonatal hypotoniaFlexion contractureAbnormal facial shapePoor suckFloppy infantFeeding difficultiesNeurodevelopmental delaySmall scrotumClitoral hypoplasiaHypoplastic labia minoraHypogonadismAbnormality of the eyeStrabismusAtypical behaviorAutistic behaviorDelayed speech and language developmentPrimary amenorrheaMild intellectual disabilityReduced tendon reflexesSpecific learning disabilityFailure to thriveDecreased fetal movementWeak cryShort footGastroesophageal refluxVentriculomegalyPolyphagiaScoliosisKyphosisExternal genital hypoplasiaShort statureIncreased body weightTemperature instabilityBorderline intellectual disabilityAbsence of pubertal developmentDecreased testicular sizeSleep apneaSkin-pickingHypothalamic luteinizing hormone-releasing hormone deficiencyChronic constipationSmall pituitary glandAbdominal obesityAbnormal temper tantrumsNasogastric tube feedingCognitive impairmentSmall handBrain imaging abnormalityMicropenisXerostomiaThin upper lip vermilionNarrow nasal bridgeMyopiaEsotropiaPsychosisCompulsive behaviorsPrecocious pubertyOsteopeniaOsteoporosisHypopigmentation of the skinSeizureLethargyHip dysplasiaAtrial septal defectRecurrent respiratory infectionsAbnormal rapid eye movement sleepDownturned corners of mouthObstructive sleep apneaHypopigmentation of hairType II diabetes mellitusAlmond-shaped palpebral fissureCentral sleep apneaImpaired temperature sensationCentral hypothyroidismPremature pubarcheChorioretinal hypopigmentationImpulsivity
Classification & Codes
Orphanet Code
ORPHA:398069Prader-Willi syndrome due to point mutation
| Orphanet | ORPHA:398069 |
| Treatments | 0 drug(s) |
| Symptoms on record | 80 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO