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Combined oxidative phosphorylation defect type 13

ORPHA:319514 · Disease · Disorder

HPO 表現型（共 33 項）

Very frequent (99-80%)(2)

  • Increased circulating lactate concentrationHP:0002151
  • Mitochondrial respiratory chain defectsHP:0200125

Frequent (79-30%)(12)

  • Abnormal corpus striatum morphologyHP:0010994
  • Axial hypotoniaHP:0008936
  • ChoreoathetosisHP:0001266
  • Delayed myelinationHP:0012448
  • Generalized hypotoniaHP:0001290
  • Increased CSF lactateHP:0002490
  • Limb dystoniaHP:0002451
  • Muscle weaknessHP:0001324
  • NystagmusHP:0000639
  • Poor head controlHP:0002421
  • Profound static encephalopathyHP:0007069
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(19)

  • Abnormal basal ganglia morphologyHP:0002134
  • Abnormal corpus callosum morphologyHP:0001273
  • Abnormality of eye movementHP:0000496
  • Absent speechHP:0001344
  • Ankle flexion contractureHP:0006466
  • Decreased nerve conduction velocityHP:0000762
  • Developmental cataractHP:0000519
  • Elevated CSF neopterin levelHP:0040204
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Gastrostomy tube feeding in infancyHP:0011471
  • Hip contractureHP:0003273
  • Intrauterine growth retardationHP:0001511
  • Lower limb hypertoniaHP:0006895
  • Orofacial dyskinesiaHP:0002310
  • Sensory neuropathyHP:0000763
  • Subsarcolemmal accumulations of abnormally shaped mitochondriaHP:0003548
  • Type 1 muscle fiber predominanceHP:0003803
  • Type 2 muscle fiber atrophyHP:0003554