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Barth syndrome

ORPHA:111 · Disease · Disorder

HPO 表現型（共 40 項）

Very frequent (99-80%)(3)

  • 3-Methylglutaconic aciduriaHP:0003535
  • Dilated cardiomyopathyHP:0001644
  • Skeletal myopathyHP:0003756

Frequent (79-30%)(25)

  • 3-Methylglutaric aciduriaHP:0003344
  • AnxietyHP:0000739
  • ArrhythmiaHP:0011675
  • Broad foreheadHP:0000337
  • Decreased circulating prealbumin concentrationHP:0031085
  • Decreased total neutrophil countHP:0001875
  • Deeply set eyeHP:0000490
  • Delayed gross motor developmentHP:0002194
  • Delayed skeletal maturationHP:0002750
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Elevated monolysocardiolipin/cardiolipin ratioHP:6000517
  • Endocardial fibroelastosisHP:0001706
  • Exercise intoleranceHP:0003546
  • Full cheeksHP:0000293
  • HypocholesterolemiaHP:0003146
  • HypotoniaHP:0001252
  • Increased total monocyte countHP:0012311
  • Lactic acidosisHP:0003128
  • Muscle weaknessHP:0001324
  • Oral ulcerHP:0000155
  • Pointed chinHP:0000307
  • Postnatal growth retardationHP:0008897
  • Prolonged QTc intervalHP:0005184
  • Round faceHP:0000311
  • Tube feedingHP:0033454

Occasional (29-5%)(12)

  • Chronic painHP:0012532
  • DepressionHP:0000716
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Hepatic steatosisHP:0001397
  • Hydrops fetalisHP:0001789
  • Hypertrophic cardiomyopathyHP:0001639
  • Intrauterine growth retardationHP:0001511
  • Recurrent infantile hypoglycemiaHP:0004914
  • ScoliosisHP:0002650
  • Sudden deathHP:0001699
  • Talipes equinovarusHP:0001762