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Severe congenital nemaline myopathy

ORPHA:171430 · Disease · Disorder

HPO 表現型（共 43 項）

Frequent (79-30%)(19)

  • Abnormal thorax morphologyHP:0000765
  • Axial muscle weaknessHP:0003327
  • Breech presentationHP:0001623
  • Decreased fetal movementHP:0001558
  • DysphagiaHP:0002015
  • Facial palsyHP:0010628
  • Flexion contractureHP:0001371
  • HypokinesiaHP:0002375
  • Increased connective tissueHP:0009025
  • Motor delayHP:0001270
  • Multiple prenatal fracturesHP:0005855
  • Nemaline bodiesHP:0003798
  • Neonatal hypotoniaHP:0001319
  • PolyhydramniosHP:0001561
  • Respiratory distressHP:0002098
  • Respiratory failureHP:0002878
  • Severe muscular hypotoniaHP:0006829
  • Skeletal muscle atrophyHP:0003202
  • Type 1 muscle fiber predominanceHP:0003803

Occasional (29-5%)(24)

  • Abnormality of the diaphragmHP:0000775
  • Adducted thumbHP:0001181
  • Arthrogryposis multiplex congenitaHP:0002804
  • Cardiac arrestHP:0001695
  • CardiomegalyHP:0001640
  • Dilated cardiomyopathyHP:0001644
  • Edema of the dorsum of handsHP:0007514
  • Facial diplegiaHP:0001349
  • FallsHP:0002527
  • Feeding difficulties in infancyHP:0008872
  • Gait disturbanceHP:0001288
  • HypospadiasHP:0000047
  • Large fontanellesHP:0000239
  • Low-set earsHP:0000369
  • MicrognathiaHP:0000347
  • MicropenisHP:0000054
  • OphthalmoplegiaHP:0000602
  • Premature birthHP:0001622
  • PtosisHP:0000508
  • Pulmonary hypoplasiaHP:0002089
  • ScoliosisHP:0002650
  • Talipes equinovarusHP:0001762
  • Thin ribsHP:0000883
  • TremorHP:0001337