← 返回搜尋

Congenital muscular dystrophy due to LMNA mutation

ORPHA:157973 · Disease · Disorder

HPO 表現型（共 22 項）

Very frequent (99-80%)(2)

  • Axial muscle weaknessHP:0003327
  • Poor head controlHP:0002421

Frequent (79-30%)(12)

  • EMG abnormalityHP:0003457
  • Feeding difficultiesHP:0011968
  • Flexion contractureHP:0001371
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • HyperlordosisHP:0003307
  • HypotoniaHP:0001252
  • Limitation of joint mobilityHP:0001376
  • MyopathyHP:0003198
  • Respiratory insufficiencyHP:0002093
  • Skeletal muscle atrophyHP:0003202
  • Spinal rigidityHP:0003306

Occasional (29-5%)(8)

  • ArrhythmiaHP:0011675
  • CachexiaHP:0004326
  • Congestive heart failureHP:0001635
  • Death in infancyHP:0001522
  • Decreased fetal movementHP:0001558
  • Joint hypermobilityHP:0001382
  • Narrow chestHP:0000774
  • TalipesHP:0001883