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Spastic paraparesis-deafness syndrome

ORPHA:2815 · Malformation syndrome · Disorder

HPO 表現型（共 13 項）

Very frequent (99-80%)(6)

  • Gait disturbanceHP:0001288
  • Hemiplegia/hemiparesisHP:0004374
  • HyperreflexiaHP:0001347
  • Impaired pain sensationHP:0007328
  • Sensorineural hearing impairmentHP:0000407
  • Spastic paraparesisHP:0002313

Frequent (79-30%)(5)

  • Abnormality of movementHP:0100022
  • CataractHP:0000518
  • HypogonadismHP:0000135
  • Short statureHP:0004322
  • Visual impairmentHP:0000505

Occasional (29-5%)(2)

  • AtaxiaHP:0001251
  • NystagmusHP:0000639