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Angelman syndrome due to maternal 15q11q13 deletion

ORPHA:98794 · Etiological subtype · Subtype of disorder

HPO 表現型（共 50 項）

Very frequent (99-80%)(7)

  • Cessation of head growthHP:0004485
  • EEG abnormalityHP:0002353
  • EEG with abnormally slow frequenciesHP:0011203
  • Global developmental delayHP:0001263
  • Neurodevelopmental delayHP:0012758
  • Secondary microcephalyHP:0005484
  • SeizureHP:0001250

Frequent (79-30%)(28)

  • Abnormal eating behaviorHP:0100738
  • Abnormal speech patternHP:0002167
  • Autistic behaviorHP:0000729
  • ConstipationHP:0002019
  • Delayed myelinationHP:0012448
  • DroolingHP:0002307
  • Feeding difficultiesHP:0011968
  • Flat occiputHP:0005469
  • Floppy infantHP:0008947
  • Functional motor deficitHP:0004302
  • Happy demeanorHP:0040082
  • HyperactivityHP:0000752
  • Hypopigmentation of hairHP:0005599
  • Hypopigmentation of the skinHP:0001010
  • Hypoplasia of the corpus callosumHP:0002079
  • Inappropriate laughterHP:0000748
  • Iris hypopigmentationHP:0007730
  • Lower limb hyperreflexiaHP:0002395
  • ObesityHP:0001513
  • Poor suckHP:0002033
  • Protruding tongueHP:0010808
  • ScoliosisHP:0002650
  • Severe intellectual disabilityHP:0010864
  • Short attention spanHP:0000736
  • StrabismusHP:0000486
  • Tongue thrustingHP:0100703
  • Wide mouthHP:0000154
  • Widely spaced teethHP:0000687

Occasional (29-5%)(15)

  • Abnormality of movementHP:0100022
  • Absent speechHP:0001344
  • AtaxiaHP:0001251
  • Broad-based gaitHP:0002136
  • DysphagiaHP:0002015
  • Gait imbalanceHP:0002141
  • Heat intoleranceHP:0002046
  • Limitation of movement at anklesHP:0010505
  • Mandibular prognathiaHP:0000303
  • Mild microcephalyHP:0040196
  • MyoclonusHP:0001336
  • Poor speechHP:0002465
  • Recurrent hand flappingHP:0100023
  • Shortened sleep phaseHP:0033063
  • TremorHP:0001337