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Richards-Rundle syndrome

ORPHA:1399 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(6)

  • AtaxiaHP:0001251
  • Distal amyotrophyHP:0003693
  • Gait disturbanceHP:0001288
  • Hearing impairmentHP:0000365
  • Hypergonadotropic hypogonadismHP:0000815
  • Mental deteriorationHP:0001268

Frequent (79-30%)(3)

  • HyperreflexiaHP:0001347
  • HypertoniaHP:0001276
  • KetonuriaHP:0002919

Occasional (29-5%)(4)

  • DolichocephalyHP:0000268
  • Joint stiffnessHP:0001387
  • NystagmusHP:0000639
  • Reduced bone mineral densityHP:0004349