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Wilson-Turner syndrome

ORPHA:3459 · Malformation syndrome · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(22)

  • Abnormal facial shapeHP:0001999
  • Broad nasal tipHP:0000455
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • Emotional labilityHP:0000712
  • Global developmental delayHP:0001263
  • GynecomastiaHP:0000771
  • Intellectual disabilityHP:0001249
  • Malar prominenceHP:0010620
  • MicrognathiaHP:0000347
  • MicrotiaHP:0008551
  • Pes cavusHP:0001761
  • Pes planusHP:0001763
  • Poor speechHP:0002465
  • Prominent supraorbital ridgesHP:0000336
  • Short footHP:0001773
  • Short statureHP:0004322
  • Small handHP:0200055
  • Tapered fingerHP:0001182
  • Thick eyebrowHP:0000574
  • Thin upper lip vermilionHP:0000219
  • Truncal obesityHP:0001956

Frequent (79-30%)(1)

  • Hypogonadotropic hypogonadismHP:0000044

Occasional (29-5%)(2)

  • SeizureHP:0001250
  • Specific learning disabilityHP:0001328

Excluded (0%)(3)

  • CataractHP:0000518
  • HypermetropiaHP:0000540
  • Uplifted earlobeHP:0009909