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Spastic paraplegia-nephritis-deafness syndrome

ORPHA:2820 · Clinical syndrome · Disorder

HPO 表現型（共 12 項）

Very frequent (99-80%)(9)

  • Abnormal speech patternHP:0002167
  • Gait disturbanceHP:0001288
  • HyperreflexiaHP:0001347
  • Intellectual disabilityHP:0001249
  • NephropathyHP:0000112
  • ParaplegiaHP:0010550
  • ProteinuriaHP:0000093
  • Sensorineural hearing impairmentHP:0000407
  • SpasticityHP:0001257

Frequent (79-30%)(1)

  • HypertensionHP:0000822

Occasional (29-5%)(2)

  • Clinodactyly of the 5th fingerHP:0004209
  • Severe short statureHP:0003510