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Angelman syndrome due to paternal uniparental disomy of chromosome 15

ORPHA:98795 · Etiological subtype · Subtype of disorder

HPO 表現型（共 28 項）

Frequent (79-30%)(14)

  • EEG abnormalityHP:0002353
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • Hypopigmentation of hairHP:0005599
  • Hypopigmentation of the skinHP:0001010
  • Intellectual disabilityHP:0001249
  • Iris hypopigmentationHP:0007730
  • Lower limb hyperreflexiaHP:0002395
  • Poor speechHP:0002465
  • Protruding tongueHP:0010808
  • SeizureHP:0001250
  • Tongue thrustingHP:0100703
  • Wide mouthHP:0000154
  • Widely spaced teethHP:0000687

Occasional (29-5%)(14)

  • Abnormal speech patternHP:0002167
  • Atypical absence seizureHP:0007270
  • Bilateral tonic-clonic seizureHP:0002069
  • Bilateral tonic-clonic seizure with generalized onsetHP:0025190
  • Broad-based gaitHP:0002136
  • Cessation of head growthHP:0004485
  • DysphagiaHP:0002015
  • EEG with focal epileptiform dischargesHP:0011185
  • Floppy infantHP:0008947
  • Gait imbalanceHP:0002141
  • Heat intoleranceHP:0002046
  • Mandibular prognathiaHP:0000303
  • Poor suckHP:0002033
  • Secondary microcephalyHP:0005484