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Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome

ORPHA:314404 · Disease · Disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(2)

  • NarcolepsyHP:0030050
  • Sensorineural hearing impairmentHP:0000407

Frequent (79-30%)(2)

  • Abnormality of mitochondrial metabolismHP:0003287
  • Optic atrophyHP:0000648

Occasional (29-5%)(24)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Abnormal cerebrospinal fluid morphologyHP:0002921
  • AtaxiaHP:0001251
  • Atrophy/Degeneration affecting the brainstemHP:0007366
  • Babinski signHP:0003487
  • CataractHP:0000518
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • DepressionHP:0000716
  • Dilated third ventricleHP:0007082
  • Head tremorHP:0002346
  • HyperreflexiaHP:0001347
  • Memory impairmentHP:0002354
  • Mental deteriorationHP:0001268
  • Neuronal loss in central nervous systemHP:0002529
  • NystagmusHP:0000639
  • Peripheral neuropathyHP:0009830
  • Predominantly lower limb lymphedemaHP:0003550
  • Primitive reflexHP:0002476
  • Pseudobulbar signsHP:0002200
  • Resting tremorHP:0002322
  • Sensory neuropathyHP:0000763
  • SpasticityHP:0001257
  • Urinary incontinenceHP:0000020