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Lipoid proteinosis

ORPHA:530 · Malformation syndrome · Disorder

HPO 表現型（共 23 項）

Very frequent (99-80%)(12)

  • Abnormal blistering of the skinHP:0008066
  • Abnormal oral mucosa morphologyHP:0011830
  • Abnormality of the gingivaHP:0000168
  • AcneHP:0001061
  • Hoarse voiceHP:0001609
  • PapuleHP:0200034
  • PustuleHP:0200039
  • ScarringHP:0100699
  • Subcutaneous noduleHP:0001482
  • Thick lower lip vermilionHP:0000179
  • Thickened skinHP:0001072
  • Tongue nodulesHP:0000199

Frequent (79-30%)(8)

  • Alopecia of scalpHP:0002293
  • DysphagiaHP:0002015
  • DystoniaHP:0001332
  • High palateHP:0000218
  • HyperkeratosisHP:0000962
  • MicroglossiaHP:0000171
  • Recurrent respiratory infectionsHP:0002205
  • VerrucaeHP:0200043

Occasional (29-5%)(3)

  • Cerebral calcificationHP:0002514
  • Nasal polyposisHP:0100582
  • SeizureHP:0001250