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Angelman syndrome due to a point mutation

ORPHA:411511 · Etiological subtype · Subtype of disorder

HPO 表現型（共 34 項）

Frequent (79-30%)(15)

  • Cessation of head growthHP:0004485
  • EEG abnormalityHP:0002353
  • Floppy infantHP:0008947
  • Happy demeanorHP:0040082
  • Hypopigmentation of hairHP:0005599
  • Hypopigmentation of the skinHP:0001010
  • Iris hypopigmentationHP:0007730
  • Lower limb hyperreflexiaHP:0002395
  • Mild intellectual disabilityHP:0001256
  • Mild microcephalyHP:0040196
  • ObesityHP:0001513
  • Secondary microcephalyHP:0005484
  • SeizureHP:0001250
  • Wide mouthHP:0000154
  • Widely spaced teethHP:0000687

Occasional (29-5%)(19)

  • Abnormal eating behaviorHP:0100738
  • Abnormal speech patternHP:0002167
  • Abnormality of movementHP:0100022
  • AtaxiaHP:0001251
  • Broad-based gaitHP:0002136
  • DroolingHP:0002307
  • DysphagiaHP:0002015
  • Feeding difficultiesHP:0011968
  • Flat occiputHP:0005469
  • Gait imbalanceHP:0002141
  • Global developmental delayHP:0001263
  • Heat intoleranceHP:0002046
  • Inappropriate laughterHP:0000748
  • Mandibular prognathiaHP:0000303
  • Poor suckHP:0002033
  • Protruding tongueHP:0010808
  • Recurrent hand flappingHP:0100023
  • StrabismusHP:0000486
  • Tongue thrustingHP:0100703