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Mucolipidosis type III

ORPHA:577 · Disease · Disorder

HPO 表現型（共 36 項）

Very frequent (99-80%)(11)

  • Abnormal hip bone morphologyHP:0003272
  • Abnormal vertebral body morphologyHP:0003312
  • Craniofacial hyperostosisHP:0004493
  • Deficiency of N-acetylglucosamine-1-phosphotransferaseHP:0003264
  • Hypoplastic inferior iliaHP:0008821
  • Joint stiffnessHP:0001387
  • Large iliac wingHP:0008818
  • Prominent occiputHP:0000269
  • Short statureHP:0004322
  • Stiff fingerHP:0025261
  • Visual impairmentHP:0000505

Frequent (79-30%)(16)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Bullet-shaped distal phalanges of the handHP:0009837
  • Chronic painHP:0012532
  • Claw hand deformityHP:0034337
  • Coarse facial featuresHP:0000280
  • Cognitive impairmentHP:0100543
  • Constrictive median neuropathyHP:0012185
  • Corneal opacityHP:0007957
  • Dysostosis multiplexHP:0000943
  • Genu valgumHP:0002857
  • Hip dysplasiaHP:0001385
  • HyperlordosisHP:0003307
  • Mitral valve prolapseHP:0001634
  • OsteoarthritisHP:0002758
  • OsteopeniaHP:0000938
  • ScoliosisHP:0002650

Occasional (29-5%)(9)

  • Aortic regurgitationHP:0001659
  • Broad ribsHP:0000885
  • FatigueHP:0012378
  • Mitral regurgitationHP:0001653
  • Reduced bone mineral densityHP:0004349
  • Restrictive ventilatory defectHP:0002091
  • Spinal cord compressionHP:0002176
  • Thickened skinHP:0001072
  • Waddling gaitHP:0002515