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Cat-eye syndrome

ORPHA:195 · Malformation syndrome · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(3)

  • Anal atresiaHP:0002023
  • Preauricular pitHP:0004467
  • Preauricular skin tagHP:0000384

Frequent (79-30%)(14)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal localization of kidneyHP:0100542
  • Abnormal rib morphologyHP:0000772
  • Chorioretinal colobomaHP:0000567
  • Downslanted palpebral fissuresHP:0000494
  • Hip dysplasiaHP:0001385
  • HydronephrosisHP:0000126
  • HypertelorismHP:0000316
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Iris colobomaHP:0000612
  • Mild intellectual disabilityHP:0001256
  • Renal hypoplasia/aplasiaHP:0008678
  • Short statureHP:0004322

Occasional (29-5%)(3)

  • Abnormality of the genital systemHP:0000078
  • Hearing impairmentHP:0000365
  • MicrophthalmiaHP:0000568