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Müllerian aplasia and hyperandrogenism

ORPHA:247768 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(10)

  • Abnormal vagina morphologyHP:0000142
  • AcneHP:0001061
  • Facial hirsutismHP:0009937
  • Frontal baldingHP:0002292
  • High anterior hairlineHP:0009890
  • HirsutismHP:0001007
  • Hypoplasia of the uterusHP:0000013
  • Increased serum testosterone levelHP:0030088
  • Primary amenorrheaHP:0000786
  • Short statureHP:0004322

Frequent (79-30%)(1)

  • ObesityHP:0001513

Occasional (29-5%)(11)

  • Abnormality of the ovaryHP:0000137
  • BrachydactylyHP:0001156
  • Cleft palateHP:0000175
  • Cubitus valgusHP:0002967
  • Protruding earHP:0000411
  • Renal agenesisHP:0000104
  • Shield chestHP:0000914
  • Short neckHP:0000470
  • Short philtrumHP:0000322
  • SynophrysHP:0000664
  • Thick eyebrowHP:0000574