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Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation

ORPHA:324525 · Disease · Disorder

HPO 表現型（共 20 項）

Frequent (79-30%)(12)

  • CardiomyopathyHP:0001638
  • Cerebral atrophyHP:0002059
  • Chronic kidney diseaseHP:0012622
  • Decreased activity of mitochondrial complex IHP:0011923
  • Elevated circulating creatine kinase activityHP:0003236
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Increased circulating lactate concentrationHP:0002151
  • Intrauterine growth retardationHP:0001511
  • Respiratory insufficiencyHP:0002093

Occasional (29-5%)(8)

  • 3-Methylglutaconic aciduriaHP:0003535
  • Decreased activity of mitochondrial complex IIIHP:0011924
  • HyperalaninemiaHP:0003348
  • HypsarrhythmiaHP:0002521
  • Increased CSF lactateHP:0002490
  • Renal tubular acidosisHP:0001947
  • SeizureHP:0001250
  • Short statureHP:0004322