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Gemignani syndrome

ORPHA:2074 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(10)

  • Abnormal testis morphologyHP:0000035
  • AtaxiaHP:0001251
  • Delayed pubertyHP:0000823
  • EMG abnormalityHP:0003457
  • Hemiplegia/hemiparesisHP:0004374
  • HyperreflexiaHP:0001347
  • Impaired pain sensationHP:0007328
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(3)

  • Hypopigmented skin patchesHP:0001053
  • Hypoplasia of penisHP:0008736
  • Intellectual disabilityHP:0001249