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Angelman syndrome

ORPHA:72 · Malformation syndrome · Disorder

HPO 表現型（共 71 項）

Very frequent (99-80%)(19)

  • Abnormal speech patternHP:0002167
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Autistic behaviorHP:0000729
  • Broad-based gaitHP:0002136
  • Cerebral cortical atrophyHP:0002120
  • Delayed speech and language developmentHP:0000750
  • EEG abnormalityHP:0002353
  • HyperactivityHP:0000752
  • Inappropriate laughterHP:0000748
  • MicrocephalyHP:0000252
  • Motor delayHP:0001270
  • Poor speechHP:0002465
  • SeizureHP:0001250
  • Self-injurious behaviorHP:0100716
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Sleep disturbanceHP:0002360
  • TremorHP:0001337

Frequent (79-30%)(19)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the gastrointestinal tractHP:0011024
  • AstigmatismHP:0000483
  • ConstipationHP:0002019
  • DroolingHP:0002307
  • Fair hairHP:0002286
  • Feeding difficultiesHP:0011968
  • Floppy infantHP:0008947
  • Gastroesophageal refluxHP:0002020
  • Hypopigmentation of the skinHP:0001010
  • Iris hypopigmentationHP:0007730
  • ObesityHP:0001513
  • PolyphagiaHP:0002591
  • Protruding tongueHP:0010808
  • Recurrent hand flappingHP:0100023
  • ScoliosisHP:0002650
  • Sleep-wake cycle disturbanceHP:0006979
  • StrabismusHP:0000486
  • Wide mouthHP:0000154

Occasional (29-5%)(32)

  • Absent speechHP:0001344
  • Aggressive behaviorHP:0000718
  • AmblyopiaHP:0000646
  • AnxietyHP:0000739
  • Atonic seizureHP:0010819
  • Atypical absence seizureHP:0007270
  • Cerebral dysmyelinationHP:0007266
  • Delayed menarcheHP:0012569
  • DysphagiaHP:0002015
  • Flat occiputHP:0005469
  • Gastrostomy tube feeding in infancyHP:0011471
  • Generalized myoclonic seizureHP:0002123
  • Happy demeanorHP:0040082
  • HypermetropiaHP:0000540
  • Inability to walkHP:0002540
  • KeratoconusHP:0000563
  • Mandibular prognathiaHP:0000303
  • MyoclonusHP:0001336
  • MyopiaHP:0000545
  • Nasogastric tube feedingHP:0040288
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Optic disc pallorHP:0000543
  • Pes valgusHP:0008081
  • Poor suckHP:0002033
  • Precocious puberty in femalesHP:0010465
  • PtosisHP:0000508
  • Reduced eye contactHP:0000817
  • Status epilepticusHP:0002133
  • Tongue thrustingHP:0100703
  • VomitingHP:0002013
  • Widely spaced teethHP:0000687

Very rare (<4-1%)(1)

  • Infantile spasmsHP:0012469