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Mosaic trisomy 20 syndrome

ORPHA:1724 · Malformation syndrome · Disorder

HPO 表現型（共 39 項）

Very frequent (99-80%)(1)

  • Floppy infantHP:0008947

Frequent (79-30%)(7)

  • Abnormal spinal cord morphologyHP:0002143
  • Chronic constipationHP:0012450
  • Depigmentation/hyperpigmentation of skinHP:0007483
  • Down-sloping shouldersHP:0200021
  • Hypopigmented streaksHP:0007535
  • Mild global developmental delayHP:0011342
  • RetrognathiaHP:0000278

Occasional (29-5%)(30)

  • Abnormal mitral valve morphologyHP:0001633
  • Abnormality of the kidneyHP:0000077
  • Cleft lipHP:0410030
  • Cleft palateHP:0000175
  • ClinodactylyHP:0030084
  • Craniofacial asymmetryHP:0004484
  • CryptorchidismHP:0000028
  • Delayed speech and language developmentHP:0000750
  • DysarthriaHP:0001260
  • Dysplastic tricuspid valveHP:0030732
  • Fused cervical vertebraeHP:0002949
  • Hearing impairmentHP:0000365
  • Horseshoe kidneyHP:0000085
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • KyphosisHP:0002808
  • Limited pronation/supination of forearmHP:0006394
  • Long neckHP:0000472
  • MicrognathiaHP:0000347
  • Motor delayHP:0001270
  • Narrow chestHP:0000774
  • ScoliosisHP:0002650
  • Specific learning disabilityHP:0001328
  • Spinal canal stenosisHP:0003416
  • StrabismusHP:0000486
  • Upslanted palpebral fissureHP:0000582
  • Ventricular septal defectHP:0001629
  • Vertebral fusionHP:0002948
  • Vertebral segmentation defectHP:0003422
  • Wide intermamillary distanceHP:0006610

Excluded (0%)(1)

  • Intellectual disabilityHP:0001249