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Mayer-Rokitansky-Küster-Hauser syndrome type 2

ORPHA:2578 · Clinical subtype · Subtype of disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(9)

  • Aplasia/hypoplasia of the uterusHP:0008684
  • AzoospermiaHP:0000027
  • Bicornuate uterusHP:0000813
  • Ectopic kidneyHP:0000086
  • Low posterior hairlineHP:0002162
  • Renal agenesisHP:0000104
  • Renal dysplasiaHP:0000110
  • Short neckHP:0000470
  • Short statureHP:0004322

Frequent (79-30%)(2)

  • Abnormal rib morphologyHP:0000772
  • Vertebral segmentation defectHP:0003422

Occasional (29-5%)(1)

  • Hearing impairmentHP:0000365