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Mitochondrial trifunctional protein deficiency

ORPHA:746 · Disease · Disorder

HPO 表現型（共 46 項）

Very frequent (99-80%)(3)

  • AreflexiaHP:0001284
  • Exercise intoleranceHP:0003546
  • RhabdomyolysisHP:0003201

Frequent (79-30%)(20)

  • CardiomyopathyHP:0001638
  • Chronic hepatic failureHP:0100626
  • Congestive heart failureHP:0001635
  • Decreased patellar reflexHP:0011808
  • Difficulty climbing stairsHP:0003551
  • Diffuse hepatic steatosisHP:0006555
  • Failure to thrive in infancyHP:0001531
  • Feeding difficulties in infancyHP:0008872
  • HypocalcemiaHP:0002901
  • Hypoketotic hypoglycemiaHP:0001985
  • HypotoniaHP:0001252
  • Left ventricular hypertrophyHP:0001712
  • LethargyHP:0001254
  • Lower limb muscle weaknessHP:0007340
  • Muscle spasmHP:0003394
  • Muscle weaknessHP:0001324
  • Peripheral neuropathyHP:0009830
  • Poor suckHP:0002033
  • Progressive distal muscle weaknessHP:0009063
  • Skeletal myopathyHP:0003756

Occasional (29-5%)(19)

  • ArrhythmiaHP:0011675
  • Babinski signHP:0003487
  • CholestasisHP:0001396
  • ComaHP:0001259
  • Equinovarus deformityHP:0008110
  • Equinus calcaneusHP:0008138
  • Frequent fallsHP:0002359
  • Generalized muscle weaknessHP:0003324
  • HypoparathyroidismHP:0000829
  • Mitral regurgitationHP:0001653
  • Motor delayHP:0001270
  • MyalgiaHP:0003326
  • Pes cavusHP:0001761
  • Pigmentary retinopathyHP:0000580
  • Respiratory failureHP:0002878
  • Respiratory insufficiencyHP:0002093
  • SeizureHP:0001250
  • Tip-toe gaitHP:0030051
  • Tricuspid regurgitationHP:0005180

Very rare (<4-1%)(4)

  • Distal peripheral sensory neuropathyHP:0007067
  • Primitive reflexHP:0002476
  • RigorsHP:0025145
  • Sensorimotor neuropathyHP:0007141