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Sialidosis type 1

ORPHA:812 · Disease · Disorder

HPO 表現型（共 42 項）

Very frequent (99-80%)(30)

  • Abnormal speech patternHP:0002167
  • Abnormality of movementHP:0100022
  • AminoaciduriaHP:0003355
  • AtaxiaHP:0001251
  • Cherry red spot of the maculaHP:0010729
  • Coarse facial featuresHP:0000280
  • Corneal opacityHP:0007957
  • Delayed skeletal maturationHP:0002750
  • Dysostosis multiplexHP:0000943
  • Gait disturbanceHP:0001288
  • HyperkeratosisHP:0000962
  • Increased urinary O-linked sialopeptidesHP:0003461
  • MyoclonusHP:0001336
  • NystagmusHP:0000639
  • Pectus carinatumHP:0000768
  • Progressive visual lossHP:0000529
  • RetinopathyHP:0000488
  • ScoliosisHP:0002650
  • SeizureHP:0001250
  • Sensorineural hearing impairmentHP:0000407
  • Short statureHP:0004322
  • Short thoraxHP:0010306
  • Skeletal dysplasiaHP:0002652
  • Slurred speechHP:0001350
  • SplenomegalyHP:0001744
  • Thick lower lip vermilionHP:0000179
  • Urinary excretion of sialylated oligosaccharidesHP:0012061
  • Vascular skin abnormalityHP:0011276
  • Visual impairmentHP:0000505
  • Wide nasal bridgeHP:0000431

Frequent (79-30%)(10)

  • Abnormal vertebral body morphologyHP:0003312
  • Decreased nerve conduction velocityHP:0000762
  • EEG abnormalityHP:0002353
  • Frontal bossingHP:0002007
  • HerniaHP:0100790
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Muscle weaknessHP:0001324
  • Skeletal muscle atrophyHP:0003202
  • TremorHP:0001337

Occasional (29-5%)(2)

  • CataractHP:0000518
  • KyphosisHP:0002808