← 返回搜尋

Spinocerebellar ataxia type 7

ORPHA:94147 · Disease · Disorder

HPO 表現型（共 32 項）

Obligate (100%)(4)

  • AtaxiaHP:0001251
  • DysarthriaHP:0001260
  • DysmetriaHP:0001310
  • HyperreflexiaHP:0001347

Very frequent (99-80%)(2)

  • Cone/cone-rod dystrophyHP:0000548
  • DysphagiaHP:0002015

Frequent (79-30%)(21)

  • Abnormal fundus morphologyHP:0001098
  • Babinski signHP:0003487
  • Cerebellar atrophyHP:0001272
  • Cerebral atrophyHP:0002059
  • Congestive heart failureHP:0001635
  • DysdiadochokinesisHP:0002075
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • Mental deteriorationHP:0001268
  • Motor delayHP:0001270
  • Muscle weaknessHP:0001324
  • Neonatal hypotoniaHP:0001319
  • NystagmusHP:0000639
  • OphthalmoparesisHP:0000597
  • OphthalmoplegiaHP:0000602
  • Orofacial dyskinesiaHP:0002310
  • Reduced visual acuityHP:0007663
  • Restless legsHP:0012452
  • Somatic sensory dysfunctionHP:0003474
  • Visual lossHP:0000572

Occasional (29-5%)(5)

  • BlindnessHP:0000618
  • HemeralopiaHP:0012047
  • Macular degenerationHP:0000608
  • PhotophobiaHP:0000613
  • PsychosisHP:0000709