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Methylmalonic acidemia with homocystinuria type cblF

ORPHA:79284 · Clinical subtype · Subtype of disorder

HPO 表現型（共 28 項）

Very frequent (99-80%)(7)

  • Decreased circulating adenosylcobalamin concentrationHP:0003145
  • Decreased circulating methylcobalamin concentrationHP:0003223
  • Decreased circulating vitamin B12 concentrationHP:0100502
  • Elevated circulating palmitoleylcarnitine concentrationHP:0031544
  • HyperhomocystinemiaHP:0002160
  • Megaloblastic anemiaHP:0001889
  • Methylmalonic aciduriaHP:0012120

Frequent (79-30%)(12)

  • Abnormal facial shapeHP:0001999
  • Abnormal heart morphologyHP:0001627
  • Failure to thriveHP:0001508
  • Feeding difficultiesHP:0011968
  • Growth delayHP:0001510
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Intrauterine growth retardationHP:0001511
  • LethargyHP:0001254
  • Neurodevelopmental delayHP:0012758
  • Recurrent infectionsHP:0002719
  • SeizureHP:0001250

Occasional (29-5%)(8)

  • Cleft palateHP:0000175
  • Decreased total neutrophil countHP:0001875
  • GlossitisHP:0000206
  • Intraventricular hemorrhageHP:0030746
  • Reduced number of intrahepatic bile ductsHP:0006571
  • Skin rashHP:0000988
  • StomatitisHP:0010280
  • Unilateral renal agenesisHP:0000122

Excluded (0%)(1)

  • HypomethioninemiaHP:0003658