← 返回搜尋

Hartnup disease

ORPHA:2116 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(11)

  • Abnormal urinary colorHP:0012086
  • AnxietyHP:0000739
  • AtaxiaHP:0001251
  • Cutaneous photosensitivityHP:0000992
  • EEG abnormalityHP:0002353
  • Emotional labilityHP:0000712
  • HallucinationsHP:0000738
  • HyperreflexiaHP:0001347
  • HypotoniaHP:0001252
  • MigraineHP:0002076
  • Neutral hyperaminoaciduriaHP:0008353

Frequent (79-30%)(8)

  • Abnormality of visionHP:0000504
  • Elevated urinary indican levelHP:6000130
  • MalabsorptionHP:0002024
  • NystagmusHP:0000639
  • PhotophobiaHP:0000613
  • Skin rashHP:0000988
  • StrabismusHP:0000486
  • TremorHP:0001337

Occasional (29-5%)(11)

  • Abnormal blistering of the skinHP:0008066
  • GingivitisHP:0000230
  • Global developmental delayHP:0001263
  • GlossitisHP:0000206
  • Hypopigmented skin patchesHP:0001053
  • Infectious encephalitisHP:0002383
  • Intellectual disabilityHP:0001249
  • Irregular hyperpigmentationHP:0007400
  • PsychosisHP:0000709
  • SeizureHP:0001250
  • Short statureHP:0004322