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Hardikar syndrome

ORPHA:1415 · Malformation syndrome · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(3)

  • Orofacial cleftHP:0000202
  • Preauricular pitHP:0004467
  • Preauricular skin tagHP:0000384

Frequent (79-30%)(9)

  • Abnormal gallbladder morphologyHP:0012437
  • Abnormal pinna morphologyHP:0000377
  • Abnormality of the biliary systemHP:0004297
  • CardiomyopathyHP:0001638
  • Coarctation of aortaHP:0001680
  • Cyst of the ductus choledochusHP:0100890
  • Intestinal malrotationHP:0002566
  • Pigmentary retinopathyHP:0000580
  • Short statureHP:0004322

Occasional (29-5%)(12)

  • Anal atresiaHP:0002023
  • Aortic aneurysmHP:0004942
  • Atrial septal defectHP:0001631
  • Congenital diaphragmatic herniaHP:0000776
  • ConstipationHP:0002019
  • Ectopic ureteral orificeHP:6000413
  • HydronephrosisHP:0000126
  • Meckel diverticulumHP:0002245
  • Patent ductus arteriosusHP:0001643
  • Vaginal atresiaHP:0000148
  • Ventricular septal defectHP:0001629
  • Vesicoureteral refluxHP:0000076