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CHIME syndrome

ORPHA:3474 · Malformation syndrome · Disorder

HPO 表現型（共 48 項）

Very frequent (99-80%)(21)

  • Abnormal dental morphologyHP:0006482
  • Abnormal dermatoglyphicsHP:0007477
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the outer earHP:0000356
  • Aplasia/Hypoplasia of the nipplesHP:0006709
  • BrachycephalyHP:0000248
  • Depressed nasal ridgeHP:0000457
  • EpicanthusHP:0000286
  • ErythemaHP:0010783
  • Hearing impairmentHP:0000365
  • HypertelorismHP:0000316
  • HypodontiaHP:0000668
  • IchthyosisHP:0008064
  • Intellectual disabilityHP:0001249
  • MicrodontiaHP:0000691
  • PtosisHP:0000508
  • Retinal colobomaHP:0000480
  • Short philtrumHP:0000322
  • StrabismusHP:0000486
  • Tall statureHP:0000098
  • Thick vermilion borderHP:0012471

Frequent (79-30%)(14)

  • Abnormal epiphysis morphologyHP:0005930
  • Aplasia/Hypoplasia of the phalanges of the handHP:0009767
  • Aplasia/Hypoplasia of the phalanges of the toesHP:0010173
  • Aplastic clavicleHP:0006660
  • Cleft palateHP:0000175
  • Corneal opacityHP:0007957
  • Pulmonary valve atresiaHP:0010882
  • SeizureHP:0001250
  • Short footHP:0001773
  • Short palmHP:0004279
  • Supernumerary toothHP:0011069
  • Tetralogy of FallotHP:0001636
  • Transposition of the great arteriesHP:0001669
  • Upslanted palpebral fissureHP:0000582

Occasional (29-5%)(13)

  • Abnormality of the kidneyHP:0000077
  • Acute leukemiaHP:0002488
  • AutismHP:0000717
  • Cerebral cortical atrophyHP:0002120
  • Clubbing of toesHP:0100760
  • Fine hairHP:0002213
  • Hip dislocationHP:0002827
  • HydronephrosisHP:0000126
  • HyperkeratosisHP:0000962
  • OsteolysisHP:0002797
  • Skin ulcerHP:0200042
  • Sparse hairHP:0008070
  • Ventricular septal defectHP:0001629