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Autosomal dominant optic atrophy, classic form

ORPHA:98673 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(2)

  • Optic atrophyHP:0000648
  • Visual impairmentHP:0000505

Frequent (79-30%)(7)

  • Color vision defectHP:0000551
  • Moderately reduced visual acuityHP:0030515
  • Morning glory anomalyHP:0025514
  • OphthalmoplegiaHP:0000602
  • Sensorimotor neuropathyHP:0007141
  • Sensorineural hearing impairmentHP:0000407
  • Temporal optic disc pallorHP:0012511

Occasional (29-5%)(5)

  • AtaxiaHP:0001251
  • Central scotomaHP:0000603
  • Gait disturbanceHP:0001288
  • MyopathyHP:0003198
  • PtosisHP:0000508

Very rare (<4-1%)(30)

  • Abnormal periventricular white matter morphologyHP:0002518
  • AreflexiaHP:0001284
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • Basal ganglia calcificationHP:0002135
  • CataractHP:0000518
  • Cerebellar atrophyHP:0001272
  • Cognitive impairmentHP:0100543
  • Corpus callosum atrophyHP:0007371
  • DementiaHP:0000726
  • Diabetes mellitusHP:0000819
  • Duane anomalyHP:0009921
  • DysphagiaHP:0002015
  • FatigueHP:0012378
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • HallucinationsHP:0000738
  • HemiparesisHP:0001269
  • HypogonadismHP:0000135
  • HypothyroidismHP:0000821
  • Macrocytic anemiaHP:0001972
  • MigraineHP:0002076
  • MyalgiaHP:0003326
  • NystagmusHP:0000639
  • Pes cavusHP:0001761
  • Scapular wingingHP:0003691
  • SeizureHP:0001250
  • Skeletal muscle atrophyHP:0003202
  • Spastic paraplegiaHP:0001258
  • SpasticityHP:0001257
  • Weakness of facial musculatureHP:0030319