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Sialidosis type 2

ORPHA:87876 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(19)

  • Abnormal macular morphologyHP:0001103
  • Abnormality of movementHP:0100022
  • AscitesHP:0001541
  • Coarse facial featuresHP:0000280
  • Corneal opacityHP:0007957
  • Delayed speech and language developmentHP:0000750
  • Dysostosis multiplexHP:0000943
  • Global developmental delayHP:0001263
  • Hearing impairmentHP:0000365
  • HepatomegalyHP:0002240
  • Hydrops fetalisHP:0001789
  • Inguinal herniaHP:0000023
  • KyphosisHP:0002808
  • NephropathyHP:0000112
  • Pedal edemaHP:0010741
  • Short statureHP:0004322
  • Short thoraxHP:0010306
  • SplenomegalyHP:0001744
  • Umbilical herniaHP:0001537

Frequent (79-30%)(7)

  • AtaxiaHP:0001251
  • Generalized hypotoniaHP:0001290
  • OsteoporosisHP:0000939
  • Pectus carinatumHP:0000768
  • SeizureHP:0001250
  • Skeletal muscle atrophyHP:0003202
  • TremorHP:0001337

Occasional (29-5%)(5)

  • Abnormal bone marrow cell morphologyHP:0005561
  • DysphoniaHP:0001618
  • DyspneaHP:0002094
  • Flexion contractureHP:0001371
  • Muscle weaknessHP:0001324