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Juvenile sialidosis type 2

ORPHA:93399 · Clinical subtype · Subtype of disorder

HPO 表現型（共 38 項）

Very frequent (99-80%)(4)

  • Coarse facial featuresHP:0000280
  • Dysostosis multiplexHP:0000943
  • Global developmental delayHP:0001263
  • VisceromegalyHP:0003271

Frequent (79-30%)(5)

  • CataractHP:0000518
  • Cherry red spot of the maculaHP:0010729
  • Floppy infantHP:0008947
  • Hearing impairmentHP:0000365
  • SeizureHP:0001250

Occasional (29-5%)(28)

  • Abnormal heart morphologyHP:0001627
  • Abnormal vertebral body morphologyHP:0003312
  • Abnormality of the kidneyHP:0000077
  • Abnormality of the respiratory systemHP:0002086
  • AtaxiaHP:0001251
  • Corneal opacityHP:0007957
  • DysmetriaHP:0001310
  • DysphagiaHP:0002015
  • DysphoniaHP:0001618
  • Generalized hypertrichosisHP:0004554
  • Generalized myoclonic seizureHP:0002123
  • Gingival overgrowthHP:0000212
  • HepatomegalyHP:0002240
  • HepatosplenomegalyHP:0001433
  • Inguinal herniaHP:0000023
  • Loss of ambulationHP:0002505
  • Low-set earsHP:0000369
  • Lower limb spasticityHP:0002061
  • Motor delayHP:0001270
  • MyoclonusHP:0001336
  • NystagmusHP:0000639
  • Optic atrophyHP:0000648
  • Protruding tongueHP:0010808
  • SpasticityHP:0001257
  • StrabismusHP:0000486
  • Umbilical herniaHP:0001537
  • Underdeveloped supraorbital ridgesHP:0009891
  • Visual lossHP:0000572

Very rare (<4-1%)(1)

  • Severe intellectual disabilityHP:0010864