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Dilated cardiomyopathy with ataxia

ORPHA:66634 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(5)

  • 3-Methylglutaconic aciduriaHP:0003535
  • AtaxiaHP:0001251
  • Dilated cardiomyopathyHP:0001644
  • Elevated circulating glutaric acid concentrationHP:0003530
  • Growth delayHP:0001510

Frequent (79-30%)(8)

  • Delayed gross motor developmentHP:0002194
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Hypochromic microcytic anemiaHP:0004840
  • Increased circulating lactate concentrationHP:0002151
  • Intrauterine growth retardationHP:0001511
  • Neurodevelopmental delayHP:0012758
  • Normochromic microcytic anemiaHP:0004856
  • Prolonged QT intervalHP:0001657

Occasional (29-5%)(8)

  • Bilateral cryptorchidismHP:0008689
  • Hypoplasia of penisHP:0008736
  • Microvesicular hepatic steatosisHP:0001414
  • Muscular ventricular septal defectHP:0011623
  • Neonatal hypoglycemiaHP:0001998
  • Optic atrophyHP:0000648
  • Perineal hypospadiasHP:0000051
  • SeizureHP:0001250

Very rare (<4-1%)(16)

  • Abnormal facial shapeHP:0001999
  • Action tremorHP:0002345
  • Arachnoid cystHP:0100702
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • Bilateral basal ganglia lesionsHP:0007146
  • Bilateral sensorineural hearing impairmentHP:0008619
  • Developmental regressionHP:0002376
  • Diaphragmatic eventrationHP:0009110
  • DyskinesiaHP:0100660
  • DystoniaHP:0001332
  • Generalized amyotrophyHP:0003700
  • HypothyroidismHP:0000821
  • Lower limb spasticityHP:0002061
  • Muscle weaknessHP:0001324
  • Neonatal hypotoniaHP:0001319
  • Repetitive compulsive behaviorHP:0008762