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Infantile Refsum disease

ORPHA:772 · Disease · Disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(11)

  • Constriction of peripheral visual fieldHP:0001133
  • Elevated circulating phytanic acid concentrationHP:0010571
  • Failure to thriveHP:0001508
  • Global developmental delayHP:0001263
  • HepatomegalyHP:0002240
  • NyctalopiaHP:0000662
  • Progressive muscle weaknessHP:0003323
  • Rod-cone dystrophyHP:0000510
  • Short statureHP:0004322
  • Very long chain fatty acid accumulationHP:0008167
  • Visual impairmentHP:0000505

Frequent (79-30%)(7)

  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Hearing impairmentHP:0000365
  • HypotoniaHP:0001252
  • NystagmusHP:0000639
  • Sensorineural hearing impairmentHP:0000407
  • SpasticityHP:0001257

Occasional (29-5%)(9)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormality of the faceHP:0000271
  • ArrhythmiaHP:0011675
  • CardiomyopathyHP:0001638
  • CataractHP:0000518
  • Facial palsyHP:0010628
  • IchthyosisHP:0008064
  • Optic atrophyHP:0000648
  • SeizureHP:0001250