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Congenital multicore myopathy with external ophthalmoplegia

ORPHA:98905 · Clinical subtype · Subtype of disorder

HPO 表現型（共 44 項）

Frequent (79-30%)(19)

  • Abnormal respiratory system physiologyHP:0002795
  • Abnormal skeletal muscle morphologyHP:0011805
  • Axial muscle weaknessHP:0003327
  • Decreased fetal movementHP:0001558
  • External ophthalmoplegiaHP:0000544
  • Facial palsyHP:0010628
  • Feeding difficultiesHP:0011968
  • Generalized hypotoniaHP:0001290
  • Hypertrophied muscle fibersHP:0100293
  • Increased connective tissueHP:0009025
  • Increased variability in muscle fiber diameterHP:0003557
  • Internally nucleated skeletal muscle fibersHP:0031237
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • Muscular dystrophyHP:0003560
  • Myopathic faciesHP:0002058
  • Proximal muscle weaknessHP:0003701
  • Type 1 muscle fiber atrophyHP:0011807
  • Type 1 muscle fiber predominanceHP:0003803

Occasional (29-5%)(25)

  • CryptorchidismHP:0000028
  • Difficulty runningHP:0009046
  • EdemaHP:0000969
  • Facial diplegiaHP:0001349
  • Flexion contractureHP:0001371
  • Frog-leg postureHP:0031139
  • High palateHP:0000218
  • Joint hypermobilityHP:0001382
  • MicropenisHP:0000054
  • Narrow faceHP:0000275
  • Nemaline bodiesHP:0003798
  • PneumoniaHP:0002090
  • PolyhydramniosHP:0001561
  • PtosisHP:0000508
  • Rectus femoris muscle atrophyHP:0040191
  • Recurrent respiratory infectionsHP:0002205
  • Respiratory failureHP:0002878
  • ScoliosisHP:0002650
  • Severe postnatal growth retardationHP:0008850
  • Shoulder girdle muscle weaknessHP:0003547
  • Skeletal muscle atrophyHP:0003202
  • Small scrotumHP:0000046
  • Sternocleidomastoid amyotrophyHP:0012036
  • Tented upper lip vermilionHP:0010804
  • Tibialis anterior muscle atrophyHP:0011399