Prader-Willi-like syndrome due to point mutation
ORPHA: 398079
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-like syndrome due to point mutation, sourced from HPO and Orphanet clinical annotations.
CryptorchidismHypogonadismInfertilityMotor delayObesityAbnormal facial shapeFloppy infantHypogonadotropic hypogonadismSmall scrotumClitoral hypoplasiaHypoplastic labia minoraStrabismusAtypical behaviorAutistic behaviorDelayed speech and language developmentPrimary amenorrheaIntellectual disabilityReduced tendon reflexesNeonatal hypotoniaSpecific learning disabilityFailure to thriveWeak cryShort footVentriculomegalyPolyphagiaScoliosisExternal genital hypoplasiaAbsence of pubertal developmentDecreased testicular sizeSkin-pickingHypothalamic luteinizing hormone-releasing hormone deficiencySmall pituitary glandAbdominal obesityNeurodevelopmental delayAbnormal temper tantrumsNasogastric tube feedingSmall handBrain imaging abnormalityMicropenisXerostomiaThin upper lip vermilionNarrow nasal bridgePsychosisPrecocious pubertyOsteopeniaOsteoporosisHypopigmentation of the skinSeizureLethargyHip dysplasiaRecurrent respiratory infectionsAbnormal rapid eye movement sleepDownturned corners of mouthObstructive sleep apneaHypopigmentation of hairType II diabetes mellitusAlmond-shaped palpebral fissureCentral sleep apneaImpaired temperature sensationCentral hypothyroidismPremature pubarchePremature adrenarcheChorioretinal hypopigmentation
Classification & Codes
Orphanet Code
ORPHA:398079Prader-Willi-like syndrome due to point mutation
| Orphanet | ORPHA:398079 |
| Treatments | 0 drug(s) |
| Symptoms on record | 63 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO