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Xq27.3q28 duplication syndrome

ORPHA:261483 · Malformation syndrome · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(13)

  • Abnormally high-pitched voiceHP:0001620
  • Bulbous noseHP:0000414
  • CryptorchidismHP:0000028
  • Decreased testicular sizeHP:0008734
  • Deeply set eyeHP:0000490
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • HypogonadismHP:0000135
  • Mild intellectual disabilityHP:0001256
  • Short footHP:0001773
  • Short statureHP:0004322
  • Small handHP:0200055
  • Thin vermilion borderHP:0000233

Frequent (79-30%)(6)

  • Delayed skeletal maturationHP:0002750
  • GynecomastiaHP:0000771
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Sparse body hairHP:0002231
  • Truncal obesityHP:0001956