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Homocystinuria without methylmalonic aciduria

ORPHA:622 · Disease · Disorder

HPO 表現型（共 31 項）

Very frequent (99-80%)(1)

  • HomocystinuriaHP:0002156

Frequent (79-30%)(15)

  • Cerebral cortical atrophyHP:0002120
  • DrowsinessHP:0002329
  • EncephalopathyHP:0001298
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • HyperhomocystinemiaHP:0002160
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Macrocytic anemiaHP:0001972
  • NystagmusHP:0000639
  • PsychosisHP:0000709
  • RetinopathyHP:0000488
  • SeizureHP:0001250
  • StrabismusHP:0000486

Occasional (29-5%)(11)

  • AtaxiaHP:0001251
  • Atypical behaviorHP:0000708
  • Brain atrophyHP:0012444
  • DementiaHP:0000726
  • Growth delayHP:0001510
  • HypomethioninemiaHP:0003658
  • LethargyHP:0001254
  • Reduced consciousnessHP:0004372
  • Reduced visual acuityHP:0007663
  • Visual impairmentHP:0000505
  • VomitingHP:0002013

Very rare (<4-1%)(3)

  • Hemolytic-uremic syndromeHP:0005575
  • Infantile spasmsHP:0012469
  • Optic atrophyHP:0000648

Excluded (0%)(1)

  • Methylmalonic acidemiaHP:0002912