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Infantile nephropathic cystinosis

ORPHA:411629 · Clinical subtype · Subtype of disorder

HPO 表現型（共 27 項）

Very frequent (99-80%)(22)

  • Abnormal circulating electrolyte concentrationHP:0003111
  • Abnormal circulating vitamin D concentrationHP:0100511
  • Abnormal tubulointerstitial morphologyHP:0001969
  • AcidosisHP:0001941
  • AminoaciduriaHP:0003355
  • ConstipationHP:0002019
  • Corneal crystalsHP:0000531
  • DehydrationHP:0001944
  • Failure to thriveHP:0001508
  • GlycosuriaHP:0003076
  • Growth delayHP:0001510
  • Hyperchloremic metabolic acidosisHP:0004918
  • HyperphosphaturiaHP:0003109
  • HypokalemiaHP:0002900
  • HypophosphatemiaHP:0002148
  • Low-molecular-weight proteinuriaHP:0003126
  • PhotophobiaHP:0000613
  • PolydipsiaHP:0001959
  • Renal Fanconi syndromeHP:0001994
  • Renal tubular dysfunctionHP:0000124
  • RicketsHP:0002748
  • VomitingHP:0002013

Frequent (79-30%)(3)

  • Abnormal cornea morphologyHP:0000481
  • Abnormality of thyroid physiologyHP:0002926
  • Pigmentary retinopathyHP:0000580

Occasional (29-5%)(2)

  • Abnormal cerebral white matter morphologyHP:0002500
  • Cognitive impairmentHP:0100543