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Congenital rubella syndrome

ORPHA:290 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(4)

  • Abnormal speech patternHP:0002167
  • CataractHP:0000518
  • Intrauterine growth retardationHP:0001511
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(22)

  • Abnormal cranial suture/fontanelle morphologyHP:0000235
  • Abnormal retinal pigmentationHP:0007703
  • Abnormality of the pulmonary arteryHP:0004414
  • AnemiaHP:0001903
  • Aplasia/Hypoplasia of the irisHP:0008053
  • Atrial septal defectHP:0001631
  • GlaucomaHP:0000501
  • HepatomegalyHP:0002240
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • MicrocephalyHP:0000252
  • MicrophthalmiaHP:0000568
  • NystagmusHP:0000639
  • Patent ductus arteriosusHP:0001643
  • Short statureHP:0004322
  • Skin rashHP:0000988
  • Spastic diplegiaHP:0001264
  • SplenomegalyHP:0001744
  • StrabismusHP:0000486
  • ThrombocytopeniaHP:0001873
  • Ventricular septal defectHP:0001629
  • Visual impairmentHP:0000505

Occasional (29-5%)(5)

  • Abnormal metaphysis morphologyHP:0000944
  • Corneal opacityHP:0007957
  • JaundiceHP:0000952
  • SeizureHP:0001250
  • Type I diabetes mellitusHP:0100651