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Angelman syndrome due to imprinting defect in 15q11-q13

ORPHA:411515 · Etiological subtype · Subtype of disorder

HPO 表現型（共 27 項）

Frequent (79-30%)(13)

  • Abnormal facial shapeHP:0001999
  • Delayed ability to walkHP:0031936
  • EEG abnormalityHP:0002353
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • Happy demeanorHP:0040082
  • Hypopigmentation of hairHP:0005599
  • Hypopigmentation of the skinHP:0001010
  • Inappropriate laughterHP:0000748
  • Iris hypopigmentationHP:0007730
  • ObesityHP:0001513
  • PolyphagiaHP:0002591
  • SeizureHP:0001250

Occasional (29-5%)(14)

  • Absent speechHP:0001344
  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Brain imaging abnormalityHP:0410263
  • Broad-based gaitHP:0002136
  • Cessation of head growthHP:0004485
  • DroolingHP:0002307
  • HyperactivityHP:0000752
  • HyperoralityHP:0000710
  • Mandibular prognathiaHP:0000303
  • Poor speechHP:0002465
  • Short attention spanHP:0000736
  • Sleep-wake cycle disturbanceHP:0006979
  • Wide mouthHP:0000154