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Peroxisomal acyl-CoA oxidase deficiency

ORPHA:2971 · Disease · Disorder

HPO 表現型（共 29 項）

Very frequent (99-80%)(15)

  • Abnormal electroretinogramHP:0000512
  • Abnormal nervous system morphologyHP:0012639
  • Abnormal speech patternHP:0002167
  • Abnormality of metabolism/homeostasisHP:0001939
  • Abnormality of visual evoked potentialsHP:0000649
  • Developmental regressionHP:0002376
  • EEG abnormalityHP:0002353
  • Gait disturbanceHP:0001288
  • Global developmental delayHP:0001263
  • HyperreflexiaHP:0001347
  • HypodontiaHP:0000668
  • HypotoniaHP:0001252
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Severe intellectual disabilityHP:0010864

Frequent (79-30%)(12)

  • Death in infancyHP:0001522
  • Depressed nasal bridgeHP:0005280
  • EpicanthusHP:0000286
  • Failure to thriveHP:0001508
  • HepatomegalyHP:0002240
  • HypertelorismHP:0000316
  • Low-set earsHP:0000369
  • MyopiaHP:0000545
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Respiratory insufficiencyHP:0002093
  • StrabismusHP:0000486

Occasional (29-5%)(2)

  • Hand polydactylyHP:0001161
  • HypertoniaHP:0001276