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Oculoskeletodental syndrome

ORPHA:557003 · Disease · Disorder

HPO 表現型（共 38 項）

Frequent (79-30%)(14)

  • Abnormal facial shapeHP:0001999
  • Abnormality of mucopolysaccharide metabolismHP:0011020
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the frontal hairlineHP:0000599
  • Coarse facial featuresHP:0000280
  • Developmental cataractHP:0000519
  • GlaucomaHP:0000501
  • Hearing impairmentHP:0000365
  • HypercalcemiaHP:0003072
  • NephrocalcinosisHP:0000121
  • Neurodevelopmental delayHP:0012758
  • Short statureHP:0004322
  • Specific learning disabilityHP:0001328
  • StrokeHP:0001297

Occasional (29-5%)(24)

  • Abnormal thalamus morphologyHP:0010663
  • Broad columellaHP:0010761
  • ClinodactylyHP:0030084
  • Conductive hearing impairmentHP:0000405
  • Delayed skeletal maturationHP:0002750
  • Depressed nasal bridgeHP:0005280
  • Dysplastic corpus callosumHP:0006989
  • Enamel hypoplasiaHP:0006297
  • EpicanthusHP:0000286
  • Focal white matter lesionsHP:0007042
  • HyperlordosisHP:0003307
  • HypocalcemiaHP:0002901
  • Hypoplasia of the capital femoral epiphysisHP:0003090
  • Metaphyseal dysplasiaHP:0100255
  • MicrodontiaHP:0000691
  • MutismHP:0002300
  • OligodontiaHP:0000677
  • RetrognathiaHP:0000278
  • ScoliosisHP:0002650
  • Sensorineural hearing impairmentHP:0000407
  • Short 5th fingerHP:0009237
  • Thick nasal alaeHP:0009928
  • Thoracic kyphosisHP:0002942
  • Wide nasal bridgeHP:0000431