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Thalidomide embryopathy

ORPHA:3312 · Malformation syndrome · Disorder

HPO 表現型(共 17 項)

Frequent (79-30%)(12)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormal fibula morphologyHP:0002991
  • Aplasia/hypoplasia of the femurHP:0005613
  • Aplasia/hypoplasia of the humerusHP:0006507
  • Aplasia/Hypoplasia of the thumbHP:0009601
  • Aplasia/Hypoplasia of the ulnaHP:0006495
  • Preaxial hand polydactylyHP:0001177
  • Radial club handHP:0004059
  • Short statureHP:0004322
  • Split handHP:0001171
  • Triphalangeal thumbHP:0001199
  • Upper limb phocomeliaHP:0009813

Occasional (29-5%)(5)

  • Abnormality of the outer earHP:0000356
  • AnotiaHP:0009892
  • Chronic rhinitisHP:0002257
  • Hearing impairmentHP:0000365
  • Insulin resistanceHP:0000855