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Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome

ORPHA:496756 · Disease · Disorder

HPO 表現型（共 24 項）

Very frequent (99-80%)(4)

  • Distal amyotrophyHP:0003693
  • Progressive encephalopathyHP:0002448
  • Spastic ataxiaHP:0002497
  • Spinal muscular atrophyHP:0007269

Frequent (79-30%)(11)

  • Cerebellar atrophyHP:0001272
  • Developmental regressionHP:0002376
  • Difficulty standingHP:0003698
  • DysarthriaHP:0001260
  • EMG: chronic denervation signsHP:0003444
  • Foot dorsiflexor weaknessHP:0009027
  • Generalized hypotoniaHP:0001290
  • Global developmental delayHP:0001263
  • Hypoplasia of the corpus callosumHP:0002079
  • Intellectual disabilityHP:0001249
  • Peripheral axonal neuropathyHP:0003477

Occasional (29-5%)(6)

  • AnarthriaHP:0002425
  • Iron accumulation in substantia nigraHP:0012678
  • Optic atrophyHP:0000648
  • Progressive spastic paraparesisHP:0007199
  • ScoliosisHP:0002650
  • Spastic tetraparesisHP:0001285

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

  • SeizureHP:0001250

Excluded (0%)(2)

  • Growth delayHP:0001510
  • HypoparathyroidismHP:0000829