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Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome

ORPHA:2928 · Malformation syndrome · Disorder

HPO 表現型（共 15 項）

Very frequent (99-80%)(9)

  • BrachydactylyHP:0001156
  • Decreased nerve conduction velocityHP:0000762
  • Diminished deep tendon reflexHP:0001315
  • EMG abnormalityHP:0003457
  • Gait disturbanceHP:0001288
  • Intellectual disabilityHP:0001249
  • MicromeliaHP:0002983
  • Muscle weaknessHP:0001324
  • Short statureHP:0004322

Frequent (79-30%)(3)

  • Camptodactyly of fingerHP:0100490
  • Truncal obesityHP:0001956
  • Ulnar deviation of fingerHP:0009465

Occasional (29-5%)(3)

  • Abnormal pelvic girdle bone morphologyHP:0002644
  • ArrhythmiaHP:0011675
  • Furrowed tongueHP:0000221