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Mucolipidosis type III alpha/beta

ORPHA:423461 · Clinical subtype · Subtype of disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(4)

  • Joint stiffnessHP:0001387
  • OligosacchariduriaHP:0010471
  • Postnatal growth retardationHP:0008897
  • Short statureHP:0004322

Frequent (79-30%)(19)

  • Abdominal wall muscle weaknessHP:0009023
  • Aortic regurgitationHP:0001659
  • Bone painHP:0002653
  • Coarse facial featuresHP:0000280
  • Conductive hearing impairmentHP:0000405
  • Depressed nasal bridgeHP:0005280
  • Dysostosis multiplexHP:0000943
  • EpicanthusHP:0000286
  • Flexion contractureHP:0001371
  • Full cheeksHP:0000293
  • Gait disturbanceHP:0001288
  • Generalized osteoporosisHP:0040160
  • Gingival overgrowthHP:0000212
  • Keratan sulfate excretion in urineHP:0012069
  • KyphoscoliosisHP:0002751
  • Mitral regurgitationHP:0001653
  • Recurrent otitis mediaHP:0000403
  • Short neckHP:0000470
  • Thickened skinHP:0001072

Occasional (29-5%)(11)

  • Cognitive impairmentHP:0100543
  • Congestive heart failureHP:0001635
  • Constrictive median neuropathyHP:0012185
  • Corneal opacityHP:0007957
  • Diastasis rectiHP:0001540
  • Hoarse voiceHP:0001609
  • Loss of ambulationHP:0002505
  • OsteolysisHP:0002797
  • Recurrent upper respiratory tract infectionsHP:0002788
  • Right ventricular hypertrophyHP:0001667
  • Umbilical herniaHP:0001537

Very rare (<4-1%)(2)

  • ProptosisHP:0000520
  • Sensorineural hearing impairmentHP:0000407