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Anophthalmia/microphthalmia-esophageal atresia syndrome

ORPHA:77298 · Malformation syndrome · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(4)

  • AnophthalmiaHP:0000528
  • Esophageal atresiaHP:0002032
  • MicrophthalmiaHP:0000568
  • Tracheoesophageal fistulaHP:0002575

Frequent (79-30%)(4)

  • Agenesis of corpus callosumHP:0001274
  • CryptorchidismHP:0000028
  • Hearing impairmentHP:0000365
  • Visual lossHP:0000572

Occasional (29-5%)(14)

  • 11 pairs of ribsHP:0000878
  • Abnormal vertebral morphologyHP:0003468
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • HemivertebraeHP:0002937
  • HoloprosencephalyHP:0001360
  • HydrocephalusHP:0000238
  • Hypoplasia of penisHP:0008736
  • HypospadiasHP:0000047
  • Intellectual disabilityHP:0001249
  • Iris colobomaHP:0000612
  • Patent ductus arteriosusHP:0001643
  • SclerocorneaHP:0000647
  • Ventricular septal defectHP:0001629