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PAGOD syndrome

ORPHA:991 · Malformation syndrome · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal morphology of female internal genitaliaHP:0000008
  • Abnormality of the pulmonary arteryHP:0004414
  • Pulmonary artery hypoplasiaHP:0004971
  • Pulmonary hypoplasiaHP:0002089

Frequent (79-30%)(11)

  • Abnormal testis morphologyHP:0000035
  • Abnormality of the uterusHP:0000130
  • AgonadismHP:0008633
  • Ambiguous genitaliaHP:0000062
  • Congenital diaphragmatic herniaHP:0000776
  • Death in infancyHP:0001522
  • Female pseudohermaphroditismHP:0010458
  • Hypoplastic left ventricleHP:0004383
  • Multicystic kidney dysplasiaHP:0000003
  • OmphaloceleHP:0001539
  • Renal hypoplasia/aplasiaHP:0008678

Occasional (29-5%)(15)

  • Abnormal aortic morphologyHP:0001679
  • Abnormal clavicle morphologyHP:0000889
  • Abnormal rib morphologyHP:0000772
  • Abnormality of neuronal migrationHP:0002269
  • Abnormality of the spleenHP:0001743
  • ArrhythmiaHP:0011675
  • Asymmetric growthHP:0100555
  • EncephaloceleHP:0002084
  • MeningoceleHP:0002435
  • MicrocephalyHP:0000252
  • Optic atrophyHP:0000648
  • Short statureHP:0004322
  • Situs inversus totalisHP:0001696
  • Spina bifidaHP:0002414
  • Sudden cardiac deathHP:0001645