← 返回搜尋

Congenital fiber-type disproportion myopathy

ORPHA:2020 · Disease · Disorder

HPO 表現型（共 59 項）

Very frequent (99-80%)(3)

  • HypotoniaHP:0001252
  • Progressive muscle weaknessHP:0003323
  • Type 1 muscle fiber atrophyHP:0011807

Frequent (79-30%)(21)

  • Abnormal skeletal morphologyHP:0011842
  • Abnormality of the respiratory systemHP:0002086
  • AreflexiaHP:0001284
  • Dental crowdingHP:0000678
  • Diminished deep tendon reflexHP:0001315
  • DysphagiaHP:0002015
  • Easy fatigabilityHP:0003388
  • Failure to thriveHP:0001508
  • Fatigable weakness of bulbar musclesHP:0030192
  • FatigueHP:0012378
  • Feeding difficultiesHP:0011968
  • Flexion contractureHP:0001371
  • High palateHP:0000218
  • Motor delayHP:0001270
  • Myopathic faciesHP:0002058
  • Poor appetiteHP:0004396
  • Poor head controlHP:0002421
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Weakness of facial musculatureHP:0030319
  • Weakness of muscles of respirationHP:0004347
  • Weight lossHP:0001824

Occasional (29-5%)(35)

  • Abnormal heart morphologyHP:0001627
  • Ankle flexion contractureHP:0006466
  • Aspiration pneumoniaHP:0011951
  • Congenital hip dislocationHP:0001374
  • Cor pulmonaleHP:0001648
  • Decreased fetal movementHP:0001558
  • Elbow flexion contractureHP:0002987
  • Flexion contracture of fingerHP:0012785
  • Foot dorsiflexor weaknessHP:0009027
  • Generalized muscle weaknessHP:0003324
  • HeadacheHP:0002315
  • Hip contractureHP:0003273
  • Hoarse voiceHP:0001609
  • HypercapniaHP:0012416
  • HyperlordosisHP:0003307
  • Hypoplasia of the musculatureHP:0009004
  • HypoxemiaHP:0012418
  • Impaired masticationHP:0005216
  • Intercostal muscle weaknessHP:0004878
  • Knee flexion contractureHP:0006380
  • KyphoscoliosisHP:0002751
  • Long faceHP:0000276
  • MicrognathiaHP:0000347
  • Nasogastric tube feeding in infancyHP:0011470
  • OphthalmoplegiaHP:0000602
  • Pectus excavatumHP:0000767
  • Pelvic girdle muscle weaknessHP:0003749
  • Pes cavusHP:0001761
  • PolyhydramniosHP:0001561
  • Recurrent respiratory infectionsHP:0002205
  • Respiratory failureHP:0002878
  • ScoliosisHP:0002650
  • Shoulder girdle muscle weaknessHP:0003547
  • Sleep disturbanceHP:0002360
  • Talipes equinovarusHP:0001762