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Familial dysautonomia

ORPHA:1764 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(12)

  • Abnormal pupil morphologyHP:0000615
  • AlacrimaHP:0000522
  • EMG abnormalityHP:0003457
  • Feeding difficulties in infancyHP:0008872
  • Growth delayHP:0001510
  • HyperhidrosisHP:0000975
  • HypohidrosisHP:0000966
  • HyporeflexiaHP:0001265
  • Impaired pain sensationHP:0007328
  • Malignant hyperthermiaHP:0002047
  • Orthostatic hypotensionHP:0001278
  • Peripheral neuropathyHP:0009830

Frequent (79-30%)(8)

  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Corneal erosionHP:0200020
  • Gait disturbanceHP:0001288
  • HypertensionHP:0000822
  • HypotoniaHP:0001252
  • Recurrent respiratory infectionsHP:0002205
  • ScoliosisHP:0002650

Occasional (29-5%)(17)

  • Abnormal peritoneum morphologyHP:0002585
  • Abnormal pleura morphologyHP:0002103
  • Abnormality of the kidneyHP:0000077
  • AcrocyanosisHP:0001063
  • Avascular necrosisHP:0010885
  • Corneal opacityHP:0007957
  • Gastroesophageal refluxHP:0002020
  • GlomerulopathyHP:0100820
  • Heterochromia iridisHP:0001100
  • HyponatremiaHP:0002902
  • MyopiaHP:0000545
  • Optic atrophyHP:0000648
  • OsteolysisHP:0002797
  • Recurrent fracturesHP:0002757
  • Renal insufficiencyHP:0000083
  • SeizureHP:0001250
  • TachycardiaHP:0001649