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Ataxia-deafness-intellectual disability syndrome

ORPHA:1188 · Malformation syndrome · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(5)

  • AtaxiaHP:0001251
  • Intellectual disabilityHP:0001249
  • NystagmusHP:0000639
  • Sensorineural hearing impairmentHP:0000407
  • StrabismusHP:0000486

Frequent (79-30%)(11)

  • Abnormal palate morphologyHP:0000174
  • Abnormal speech patternHP:0002167
  • Aplasia/Hypoplasia of the cerebellumHP:0007360
  • Cerebral cortical atrophyHP:0002120
  • Decreased nerve conduction velocityHP:0000762
  • Diminished deep tendon reflexHP:0001315
  • EMG abnormalityHP:0003457
  • HypotoniaHP:0001252
  • ScoliosisHP:0002650
  • Skeletal muscle atrophyHP:0003202
  • VentriculomegalyHP:0002119

Occasional (29-5%)(1)

  • Joint hypermobilityHP:0001382