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Ataxia-telangiectasia

ORPHA:100 · Disease · Disorder

HPO 表現型（共 37 項）

Very frequent (99-80%)(23)

  • Abnormal speech patternHP:0002167
  • Abnormality of chromosome stabilityHP:0003220
  • Abnormality of eye movementHP:0000496
  • Abnormality of movementHP:0100022
  • Abnormality of the immune systemHP:0002715
  • Aplasia/Hypoplasia of the thymusHP:0010515
  • AtaxiaHP:0001251
  • Cellular immunodeficiencyHP:0005374
  • Decreased circulating immunoglobulin concentrationHP:0004313
  • Decreased total lymphocyte countHP:0001888
  • Delayed pubertyHP:0000823
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • Gait disturbanceHP:0001288
  • ImmunodeficiencyHP:0002721
  • Mucosal telangiectasiaeHP:0100579
  • NystagmusHP:0000639
  • Polycystic ovariesHP:0000147
  • Premature graying of hairHP:0002216
  • Prematurely aged appearanceHP:0007495
  • Recurrent respiratory infectionsHP:0002205
  • StrabismusHP:0000486
  • Telangiectasia of the skinHP:0100585
  • TremorHP:0001337

Frequent (79-30%)(8)

  • Diabetes mellitusHP:0000819
  • DysarthriaHP:0001260
  • Hypopigmentation of hairHP:0005599
  • NeoplasmHP:0002664
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202
  • SpasticityHP:0001257

Occasional (29-5%)(6)

  • Abnormal testis morphologyHP:0000035
  • Aplasia/Hypoplasia of the skinHP:0008065
  • Cognitive impairmentHP:0100543
  • Failure to thriveHP:0001508
  • Multiple cafe-au-lait spotsHP:0007565
  • Type II diabetes mellitusHP:0005978