Angelman syndrome
MeSH: D017204ORPHA: 72
Overview
genetic condition in humans
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 Angelman syndrome, sourced from HPO and Orphanet clinical annotations.
MicrocephalyAtypical behaviorAutistic behaviorInappropriate laughterDelayed speech and language developmentHyperactivitySeizureAtaxiaMotor delayTremorCerebral cortical atrophyBroad-based gaitAbnormal speech patternEEG abnormalitySleep disturbancePoor speechSevere intellectual disabilitySevere global developmental delaySelf-injurious behaviorWide mouthAstigmatismStrabismusHypopigmentation of the skinObesityAbnormal facial shapeConstipationGastroesophageal refluxFair hairDroolingPolyphagiaScoliosisSleep-wake cycle disturbanceIris hypopigmentationFloppy infantProtruding tongueAbnormality of the gastrointestinal tractFeeding difficultiesRecurrent hand flappingMandibular prognathiaPtosisHypermetropiaOptic disc pallorMyopiaKeratoconusNystagmusAmblyopiaOptic atrophyWidely spaced teethAggressive behaviorAnxietyReduced eye contactMyoclonusAbsent speechVomitingDysphagiaPoor suckGeneralized myoclonic seizureStatus epilepticusInability to walkFlat occiputCerebral dysmyelinationAtypical absence seizurePes valgusPrecocious puberty in femalesAtonic seizureGastrostomy tube feeding in infancyDelayed menarcheHappy demeanorNasogastric tube feedingTongue thrustingInfantile spasms
Classification & Codes
MeSH Code
D017204Orphanet Code
ORPHA:72Angelman syndrome
| MeSH | D017204 |
| Orphanet | ORPHA:72 |
| Treatments | 0 drug(s) |
| Symptoms on record | 71 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO