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Methylmalonic acidemia with homocystinuria

ORPHA:26 · Disease · Disorder

HPO 表現型（共 18 項）

Very frequent (99-80%)(12)

  • AmblyopiaHP:0000646
  • Failure to thriveHP:0001508
  • FatigueHP:0012378
  • Feeding difficultiesHP:0011968
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • LethargyHP:0001254
  • Megaloblastic bone marrowHP:0001980
  • MicrocephalyHP:0000252
  • RetinopathyHP:0000488
  • SeizureHP:0001250

Frequent (79-30%)(5)

  • Abnormal cardiovascular system morphologyHP:0030680
  • Abnormality of movementHP:0100022
  • Atypical behaviorHP:0000708
  • Gait disturbanceHP:0001288
  • HydrocephalusHP:0000238

Occasional (29-5%)(1)

  • Skin rashHP:0000988