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Osteopetrosis with renal tubular acidosis

ORPHA:2785 · Disease · Disorder

HPO 表現型（共 60 項）

Very frequent (99-80%)(3)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • OsteopetrosisHP:0011002
  • Renal tubular acidosisHP:0001947

Frequent (79-30%)(13)

  • Abnormal facial shapeHP:0001999
  • Abnormality of the dentitionHP:0000164
  • Basal ganglia calcificationHP:0002135
  • Cerebral calcificationHP:0002514
  • Cranial nerve compressionHP:0001293
  • Distal renal tubular acidosisHP:0008341
  • Elevated circulating creatine kinase activityHP:0003236
  • Elevated serum acid phosphataseHP:0003148
  • Global developmental delayHP:0001263
  • HypocalcemiaHP:0002901
  • Proximal renal tubular acidosisHP:0002049
  • Recurrent fracturesHP:0002757
  • Short statureHP:0004322

Occasional (29-5%)(38)

  • Abnormal periventricular white matter morphologyHP:0002518
  • Abnormal retinal morphologyHP:0000479
  • AnemiaHP:0001903
  • Blue scleraeHP:0000592
  • Bone marrow hypocellularityHP:0005528
  • BrachycephalyHP:0000248
  • Cranial nerve paralysisHP:0006824
  • Craniofacial disproportionHP:0005461
  • Decreased total leukocyte countHP:0001882
  • ElliptocytosisHP:0004445
  • Enlarged tonsilsHP:0030812
  • Failure to thriveHP:0001508
  • HepatomegalyHP:0002240
  • High palateHP:0000218
  • HydronephrosisHP:0000126
  • Intellectual disabilityHP:0001249
  • Kidney stoneHP:0000787
  • MacrotiaHP:0000400
  • MicrognathiaHP:0000347
  • Narrow mouthHP:0000160
  • OligohydramniosHP:0001562
  • Optic atrophyHP:0000648
  • PancytopeniaHP:0001876
  • Pectus excavatumHP:0000767
  • Persistence of primary teethHP:0006335
  • PlagiocephalyHP:0001357
  • Prominence of the zygomatic boneHP:0012370
  • Prominent floating ribsHP:0006641
  • Prominent foreheadHP:0011220
  • Retinal atrophyHP:0001105
  • RetrognathiaHP:0000278
  • Secondary hyperparathyroidismHP:0000867
  • Severe intellectual disabilityHP:0010864
  • Specific learning disabilityHP:0001328
  • Thick lower lip vermilionHP:0000179
  • Thickened calvariaHP:0002684
  • ThrombocytopeniaHP:0001873
  • Tooth malpositionHP:0000692

Very rare (<4-1%)(6)

  • Conductive hearing impairmentHP:0000405
  • Entrapment neuropathyHP:0012181
  • Metabolic acidosisHP:0001942
  • Obstructive sleep apneaHP:0002870
  • Pulmonary arterial hypertensionHP:0002092
  • TetraparesisHP:0002273