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Sudden infant death-dysgenesis of the testes syndrome

ORPHA:168593 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(12)

  • Abnormal autonomic nervous system physiologyHP:0012332
  • Abnormal pattern of respirationHP:0002793
  • Ambiguous genitaliaHP:0000062
  • ArrhythmiaHP:0011675
  • Cardiac arrestHP:0001695
  • CryptorchidismHP:0000028
  • Death in infancyHP:0001522
  • Gastroesophageal refluxHP:0002020
  • Hypoplasia of penisHP:0008736
  • HypothermiaHP:0002045
  • Sleep apneaHP:0010535
  • Small scrotumHP:0000046

Frequent (79-30%)(5)

  • Abnormality of the voiceHP:0001608
  • Growth delayHP:0001510
  • HyporeflexiaHP:0001265
  • MyoclonusHP:0001336
  • OphthalmoplegiaHP:0000602