← 返回搜尋

Kearns-Sayre syndrome

ORPHA:480 · Disease · Disorder

HPO 表現型（共 30 項）

Very frequent (99-80%)(3)

  • Pigmentary retinopathyHP:0000580
  • Progressive external ophthalmoplegiaHP:0000590
  • Third degree atrioventricular blockHP:0001709

Frequent (79-30%)(11)

  • Anterior hypopituitarismHP:0000830
  • AtaxiaHP:0001251
  • Diminished deep tendon reflexHP:0001315
  • EMG abnormalityHP:0003457
  • Hearing impairmentHP:0000365
  • HypotoniaHP:0001252
  • Increased CSF protein concentrationHP:0002922
  • Progressive intervertebral space narrowingHP:0004622
  • PtosisHP:0000508
  • Ragged-red muscle fibersHP:0003200
  • Skeletal muscle atrophyHP:0003202

Occasional (29-5%)(16)

  • CardiomyopathyHP:0001638
  • Chronic kidney diseaseHP:0012622
  • Cognitive impairmentHP:0100543
  • Delayed pubertyHP:0000823
  • Delayed skeletal maturationHP:0002750
  • DementiaHP:0000726
  • Diabetes mellitusHP:0000819
  • DysphagiaHP:0002015
  • Exercise intoleranceHP:0003546
  • Hemiplegia/hemiparesisHP:0004374
  • HypoparathyroidismHP:0000829
  • Muscle weaknessHP:0001324
  • Neck muscle weaknessHP:0000467
  • Renal tubular acidosisHP:0001947
  • Short statureHP:0004322
  • TremorHP:0001337