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Trisomy 13 syndrome

ORPHA:3378 · Malformation syndrome · Disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(24)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal cranial suture/fontanelle morphologyHP:0000235
  • Abnormal pelvic girdle bone morphologyHP:0002644
  • Abnormal speech patternHP:0002167
  • AnophthalmiaHP:0000528
  • Atrial septal defectHP:0001631
  • Bilateral single transverse palmar creasesHP:0007598
  • Cleft palateHP:0000175
  • Cognitive impairmentHP:0100543
  • Cystic hygromaHP:0000476
  • Hydrops fetalisHP:0001789
  • HypotelorismHP:0000601
  • HypotoniaHP:0001252
  • Intrauterine growth retardationHP:0001511
  • Low-set earsHP:0000369
  • Malar flatteningHP:0000272
  • Median cleft upper lipHP:0000161
  • MicrophthalmiaHP:0000568
  • Patent ductus arteriosusHP:0001643
  • Postaxial hand polydactylyHP:0001162
  • SeizureHP:0001250
  • Severe global developmental delayHP:0011344
  • Severe intellectual disabilityHP:0010864
  • Ventricular septal defectHP:0001629

Frequent (79-30%)(35)

  • Abnormal antihelix morphologyHP:0009738
  • Abnormal dermatoglyphicsHP:0007477
  • Abnormal eyelash morphologyHP:0000499
  • Abnormal helix morphologyHP:0011039
  • Abnormal lung lobationHP:0002101
  • Abnormal morphology of female internal genitaliaHP:0000008
  • Abnormal retinal vascular morphologyHP:0008046
  • Abnormal rib morphologyHP:0000772
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the eyeHP:0000478
  • Abnormality of the middle earHP:0000370
  • Abnormality of the ureterHP:0000069
  • Abnormality of visionHP:0000504
  • Aplasia/Hypoplasia of the irisHP:0008053
  • Calvarial skull defectHP:0001362
  • Capillary hemangiomaHP:0005306
  • CataractHP:0000518
  • Chiari malformationHP:0002308
  • CryptorchidismHP:0000028
  • Deeply set eyeHP:0000490
  • Displacement of the urethral meatusHP:0100627
  • EctrodactylyHP:0100257
  • HerniaHP:0100790
  • High, narrow palateHP:0002705
  • HydronephrosisHP:0000126
  • Iris colobomaHP:0000612
  • KyphosisHP:0002808
  • Long philtrumHP:0000343
  • Multiple renal cystsHP:0005562
  • Narrow chestHP:0000774
  • Optic atrophyHP:0000648
  • Preauricular pitHP:0004467
  • Preauricular skin tagHP:0000384
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407