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Ullrich congenital muscular dystrophy

ORPHA:75840 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(12)

  • Abnormal muscle fiber morphologyHP:0004303
  • Abnormal palate morphologyHP:0000174
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG: myopathic abnormalitiesHP:0003458
  • Flexion contractureHP:0001371
  • Generalized muscle weaknessHP:0003324
  • Increased endomysial connective tissueHP:0100297
  • Increased laxity of fingersHP:0006149
  • Increased variability in muscle fiber diameterHP:0003557
  • KyphosisHP:0002808
  • Spinal rigidityHP:0003306
  • Wrist hypermobilityHP:0005072

Frequent (79-30%)(19)

  • Adducted thumbHP:0001181
  • Decreased fetal movementHP:0001558
  • Diaphragmatic weaknessHP:0009113
  • Elbow flexion contractureHP:0002987
  • EsotropiaHP:0000565
  • Frequent fallsHP:0002359
  • Generalized amyotrophyHP:0003700
  • Generalized hypotoniaHP:0001290
  • Hip dislocationHP:0002827
  • Knee flexion contractureHP:0006380
  • Long toeHP:0010511
  • MicrognathiaHP:0000347
  • Muscle weaknessHP:0001324
  • Pes valgusHP:0008081
  • Respiratory failureHP:0002878
  • ScoliosisHP:0002650
  • Short neckHP:0000470
  • Slender fingerHP:0001238
  • TorticollisHP:0000473