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Lethal ataxia with deafness and optic atrophy

ORPHA:1187 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(14)

  • Abnormal erythrocyte enzyme concentration or activityHP:0030272
  • Abnormality of somatosensory evoked potentialsHP:0007377
  • BlindnessHP:0000618
  • Congenital sensorineural hearing impairmentHP:0008527
  • Decreased motor nerve conduction velocityHP:0003431
  • EMG: chronic denervation signsHP:0003444
  • Muscle weaknessHP:0001324
  • MutismHP:0002300
  • Optic atrophyHP:0000648
  • Recurrent infectionsHP:0002719
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Severe demyelination of the white matterHP:0007258
  • Severe infectionHP:0032169
  • Visual impairmentHP:0000505

Frequent (79-30%)(16)

  • Appendicular hypotoniaHP:0012389
  • AreflexiaHP:0001284
  • AtaxiaHP:0001251
  • Axial hypotoniaHP:0008936
  • EEG with focal epileptiform dischargesHP:0011185
  • HypouricemiaHP:0003537
  • Mild intellectual disabilityHP:0001256
  • Moderate intellectual disabilityHP:0002342
  • Motor delayHP:0001270
  • Neck muscle weaknessHP:0000467
  • NystagmusHP:0000639
  • Peripheral neuropathyHP:0009830
  • Profound sensorineural hearing impairmentHP:0011476
  • Respiratory failure requiring assisted ventilationHP:0004887
  • Spinal cord dorsal column hypomyelinationHP:0008311
  • TetraplegiaHP:0002445