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Isolated ATP synthase deficiency

ORPHA:254913 · Disease · Disorder

HPO 表現型（共 40 項）

Frequent (79-30%)(16)

  • 3-Methylglutaconic aciduriaHP:0003535
  • ArrhythmiaHP:0011675
  • AtaxiaHP:0001251
  • Dilated cardiomyopathyHP:0001644
  • EncephalopathyHP:0001298
  • HyperalaninemiaHP:0003348
  • HyperammonemiaHP:0001987
  • Hypertrophic cardiomyopathyHP:0001639
  • HypotoniaHP:0001252
  • Lactic acidosisHP:0003128
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • Neurodevelopmental delayHP:0012758
  • Peripheral neuropathyHP:0009830
  • Respiratory distressHP:0002098
  • SeizureHP:0001250

Occasional (29-5%)(23)

  • BlindnessHP:0000618
  • CataractHP:0000518
  • Cerebellar atrophyHP:0001272
  • Cerebral cortical atrophyHP:0002120
  • DysarthriaHP:0001260
  • DystoniaHP:0001332
  • Exercise intoleranceHP:0003546
  • HepatomegalyHP:0002240
  • HypogonadismHP:0000135
  • HypothyroidismHP:0000821
  • LethargyHP:0001254
  • MicrocephalyHP:0000252
  • Myoclonic seizureHP:0032794
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • PtosisHP:0000508
  • Renal hypoplasiaHP:0000089
  • Rod-cone dystrophyHP:0000510
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Spastic paraplegiaHP:0001258
  • StrabismusHP:0000486
  • TetraplegiaHP:0002445

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

  • OphthalmoplegiaHP:0000602