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Multiple epiphyseal dysplasia, Lowry type

ORPHA:166016 · Disease · Disorder

HPO 表現型（共 20 項）

Very frequent (99-80%)(18)

  • Abnormal sternum morphologyHP:0000766
  • BrachydactylyHP:0001156
  • Broad nasal tipHP:0000455
  • Cleft hard palateHP:0410005
  • Delayed epiphyseal ossificationHP:0002663
  • Dislocated radial headHP:0003083
  • Epiphyseal dysplasiaHP:0002656
  • Fibular hypoplasiaHP:0003038
  • Flattened epiphysisHP:0003071
  • Fragmented epiphysesHP:0100168
  • Genu valgumHP:0002857
  • HypertelorismHP:0000316
  • MicrognathiaHP:0000347
  • RhizomeliaHP:0008905
  • ScoliosisHP:0002650
  • Short statureHP:0004322
  • Small epiphysesHP:0010585
  • Upslanted palpebral fissureHP:0000582

Frequent (79-30%)(2)

  • Fixed elbow flexionHP:0006471
  • Knee flexion contractureHP:0006380