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Autosomal dominant optic atrophy plus syndrome

ORPHA:1215 · Disease · Disorder

HPO 表現型（共 26 項）

Very frequent (99-80%)(2)

  • Optic atrophyHP:0000648
  • Progressive visual lossHP:0000529

Frequent (79-30%)(11)

  • Abnormal retinal nerve fiber layer morphologyHP:0020119
  • Abnormality of visual evoked potentialsHP:0000649
  • Absent brainstem auditory responsesHP:0004463
  • Bilateral ptosisHP:0001488
  • EMG: impaired neuromuscular transmissionHP:0100285
  • FatigueHP:0012378
  • Limb-girdle muscle weaknessHP:0003325
  • Mitochondrial myopathyHP:0003737
  • MyopathyHP:0003198
  • Progressive external ophthalmoplegiaHP:0000590
  • Sensorineural hearing impairmentHP:0000407

Occasional (29-5%)(10)

  • Absent Achilles reflexHP:0003438
  • AtaxiaHP:0001251
  • Constriction of peripheral visual fieldHP:0001133
  • EMG: chronic denervation signsHP:0003444
  • Motor axonal neuropathyHP:0007002
  • Peripheral neuropathyHP:0009830
  • Pes cavusHP:0001761
  • Sensory neuropathyHP:0000763
  • Spastic paraplegiaHP:0001258
  • Temporal optic disc pallorHP:0012511

Very rare (<4-1%)(3)

  • CardiomyopathyHP:0001638
  • Diabetes mellitusHP:0000819
  • MigraineHP:0002076