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Bangstad syndrome

ORPHA:1227 · Malformation syndrome · Disorder

HPO 表現型(共 21 項)

Very frequent (99-80%)(21)

  • Abnormal testis morphologyHP:0000035
  • Abnormality of the dentitionHP:0000164
  • Abnormality of the parathyroid glandHP:0000828
  • AtaxiaHP:0001251
  • Convex nasal ridgeHP:0000444
  • Deeply set eyeHP:0000490
  • Deviation of fingerHP:0004097
  • EEG abnormalityHP:0002353
  • HyperinsulinemiaHP:0000842
  • HypothyroidismHP:0000821
  • Increased circulating cortisol levelHP:0003118
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • MicrocephalyHP:0000252
  • Narrow faceHP:0000275
  • Polycystic ovariesHP:0000147
  • Primary gonadal insufficiencyHP:0008193
  • SeizureHP:0001250
  • Short statureHP:0004322
  • Sloping foreheadHP:0000340
  • Type I diabetes mellitusHP:0100651