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Sandhoff disease

ORPHA:796 · Disease · Disorder

HPO 表現型（共 19 項）

Very frequent (99-80%)(12)

  • Abnormal glycosphingolipid metabolismHP:0004343
  • Abnormality of movementHP:0100022
  • AtaxiaHP:0001251
  • BlindnessHP:0000618
  • Cherry red spot of the maculaHP:0010729
  • Failure to thriveHP:0001508
  • Hearing impairmentHP:0000365
  • KyphosisHP:0002808
  • MacrocephalyHP:0000256
  • Motor deteriorationHP:0002333
  • Progressive psychomotor deteriorationHP:0007272
  • SeizureHP:0001250

Frequent (79-30%)(5)

  • Full cheeksHP:0000293
  • HepatomegalyHP:0002240
  • Muscle weaknessHP:0001324
  • Recurrent respiratory infectionsHP:0002205
  • SplenomegalyHP:0001744

Occasional (29-5%)(2)

  • Congestive heart failureHP:0001635
  • Skeletal dysplasiaHP:0002652