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Mucolipidosis type II

ORPHA:576 · Disease · Disorder

HPO 表現型（共 63 項）

Very frequent (99-80%)(13)

  • Abnormal atrioventricular valve physiologyHP:0031650
  • Abnormal cardiovascular system morphologyHP:0030680
  • Coarse facial featuresHP:0000280
  • Expressive language delayHP:0002474
  • Gingival overgrowthHP:0000212
  • Hoarse voiceHP:0001609
  • Motor delayHP:0001270
  • Postnatal growth retardationHP:0008897
  • Protuberant abdomenHP:0001538
  • Restricted chest movementHP:0006596
  • Short statureHP:0004322
  • Thickened skinHP:0001072
  • Umbilical herniaHP:0001537

Frequent (79-30%)(16)

  • Abnormal mitral valve morphologyHP:0001633
  • Abnormality of the thoracic cavityHP:0045027
  • Cognitive impairmentHP:0100543
  • Conductive hearing impairmentHP:0000405
  • CraniosynostosisHP:0001363
  • Depressed nasal bridgeHP:0005280
  • Flat faceHP:0012368
  • Inability to walkHP:0002540
  • Limitation of joint mobilityHP:0001376
  • Mitral regurgitationHP:0001653
  • Narrow chestHP:0000774
  • Obstructive sleep apneaHP:0002870
  • Otitis mediaHP:0000388
  • Poor speechHP:0002465
  • Pulmonic regurgitationHP:0010444
  • Restrictive ventilatory defectHP:0002091

Occasional (29-5%)(30)

  • Abnormal aortic valve morphologyHP:0001646
  • Abnormal long bone morphologyHP:0011314
  • Aortic regurgitationHP:0001659
  • Appendicular hypotoniaHP:0012389
  • Axial hypotoniaHP:0008936
  • CardiomyopathyHP:0001638
  • Decreased movement range in interphalangeal jointsHP:0006203
  • Diastasis rectiHP:0001540
  • Dry hairHP:0011359
  • EpicanthusHP:0000286
  • Fine hairHP:0002213
  • HepatosplenomegalyHP:0001433
  • Hip contractureHP:0003273
  • Hip dislocationHP:0002827
  • Inguinal herniaHP:0000023
  • Knee flexion contractureHP:0006380
  • KyphosisHP:0002808
  • Left ventricular hypertrophyHP:0001712
  • Limited shoulder movementHP:0006467
  • Limited wrist movementHP:0006248
  • OligohydramniosHP:0001562
  • Patent foramen ovaleHP:0001655
  • Prominent metopic ridgeHP:0005487
  • Recurrent respiratory infectionsHP:0002205
  • Shallow orbitsHP:0000586
  • StridorHP:0010307
  • Talipes equinovarusHP:0001762
  • Telangiectases of the cheeksHP:0007421
  • Weight lossHP:0001824
  • White hairHP:0011364

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

  • Gastrostomy tube feeding in infancyHP:0011471
  • Respiratory failure requiring assisted ventilationHP:0004887
  • Sensorineural hearing impairmentHP:0000407
  • SplenomegalyHP:0001744