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Ring chromosome Y syndrome

ORPHA:261529 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(6)

  • Abnormal spermatogenesisHP:0008669
  • AzoospermiaHP:0000027
  • CryptorchidismHP:0000028
  • Female infertilityHP:0008222
  • Male hypogonadismHP:0000026
  • Male infertilityHP:0003251

Frequent (79-30%)(10)

  • Abnormality of the female genitaliaHP:0010460
  • Abnormality of the male genitaliaHP:0010461
  • Ambiguous genitaliaHP:0000062
  • Ambiguous genitalia, femaleHP:0000061
  • Ambiguous genitalia, maleHP:0000033
  • Gonadal dysgenesisHP:0000133
  • HypospadiasHP:0000047
  • Short statureHP:0004322
  • Unilateral cryptorchidismHP:0012741
  • Urogenital sinus anomalyHP:0100779

Occasional (29-5%)(6)

  • Bifid scrotumHP:0000048
  • GonadoblastomaHP:0000150
  • GynecomastiaHP:0000771
  • ObesityHP:0001513
  • Perineal hypospadiasHP:0000051
  • Streak ovaryHP:0010464