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Cataract-ataxia-deafness syndrome

ORPHA:1368 · Disease · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(9)

  • Adult onset sensorineural hearing impairmentHP:0008615
  • AreflexiaHP:0001284
  • AtaxiaHP:0001251
  • Decreased nerve conduction velocityHP:0000762
  • Developmental cataractHP:0000519
  • HypertoniaHP:0001276
  • Mild intellectual disabilityHP:0001256
  • Peripheral neuropathyHP:0009830
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(4)

  • NystagmusHP:0000639
  • Short statureHP:0004322
  • TremorHP:0001337
  • Visual impairmentHP:0000505