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Adult Refsum disease

ORPHA:773 · Disease · Disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(18)

  • Abnormal foot morphologyHP:0001760
  • Abnormal pyramidal signHP:0007256
  • Abnormal retinal pigmentationHP:0007703
  • Abnormality of metabolism/homeostasisHP:0001939
  • Abnormality of the eyeHP:0000478
  • Abnormality of visionHP:0000504
  • AnosmiaHP:0000458
  • AtaxiaHP:0001251
  • CardiomyopathyHP:0001638
  • CataractHP:0000518
  • Dry skinHP:0000958
  • Hemiplegia/hemiparesisHP:0004374
  • IchthyosisHP:0008064
  • Nail dysplasiaHP:0002164
  • Peripheral neuropathyHP:0009830
  • RetinopathyHP:0000488
  • Sensorineural hearing impairmentHP:0000407
  • Skeletal dysplasiaHP:0002652

Frequent (79-30%)(13)

  • Abnormal epiphysis morphologyHP:0005930
  • Abnormality of eye movementHP:0000496
  • Developmental regressionHP:0002376
  • HammertoeHP:0001765
  • HypotoniaHP:0001252
  • MiosisHP:0000616
  • NyctalopiaHP:0000662
  • PtosisHP:0000508
  • Severe intellectual disabilityHP:0010864
  • Short metacarpalHP:0010049
  • Skeletal muscle atrophyHP:0003202
  • SplenomegalyHP:0001744
  • Visual impairmentHP:0000505

Occasional (29-5%)(7)

  • Heart blockHP:0012722
  • MicrophthalmiaHP:0000568
  • NystagmusHP:0000639
  • Pes cavusHP:0001761
  • Progressive visual lossHP:0000529
  • Renal insufficiencyHP:0000083
  • Respiratory insufficiencyHP:0002093