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S-adenosylhomocysteine hydrolase deficiency

ORPHA:88618 · Disease · Disorder

HPO 表現型（共 44 項）

Very frequent (99-80%)(5)

  • Abnormal circulating homocysteine concentrationHP:0010919
  • Abnormal circulating methionine concentrationHP:0010901
  • Elevated circulating hepatic transaminase concentrationHP:0002910
  • HyperhomocystinemiaHP:0002160
  • HypoalbuminemiaHP:0003073

Frequent (79-30%)(27)

  • Abnormal facial shapeHP:0001999
  • Abnormality of coagulationHP:0001928
  • Abnormality of the liverHP:0001392
  • Atypical behaviorHP:0000708
  • Cerebellar hypoplasiaHP:0001321
  • CNS hypomyelinationHP:0003429
  • Delayed myelinationHP:0012448
  • Developmental regressionHP:0002376
  • Elevated circulating creatine kinase activityHP:0003236
  • Elevated coagulation factor V activityHP:0011996
  • EsotropiaHP:0000565
  • Failure to thriveHP:0001508
  • Floppy infantHP:0008947
  • Global developmental delayHP:0001263
  • Growth delayHP:0001510
  • Hydrops fetalisHP:0001789
  • Hyperintensity of cerebral white matter on MRIHP:0030890
  • HypofibrinogenemiaHP:0011900
  • Hypoplasia of the corpus callosumHP:0002079
  • Hypoplasia of the ponsHP:0012110
  • Muscular dystrophyHP:0003560
  • Poor head controlHP:0002421
  • Prolonged prothrombin timeHP:0008151
  • Reduced antithrombin III activityHP:0001976
  • Reduced factor VII activityHP:0008169
  • Short attention spanHP:0000736
  • StrabismusHP:0000486

Occasional (29-5%)(12)

  • Abnormality of hair textureHP:0010719
  • Abnormality of the dentitionHP:0000164
  • CardiomyopathyHP:0001638
  • Hepatocellular carcinomaHP:0001402
  • HypermethioninemiaHP:0003235
  • MicrocephalyHP:0000252
  • Muscle weaknessHP:0001324
  • Pes planusHP:0001763
  • Respiratory failureHP:0002878
  • Sensorimotor neuropathyHP:0007141
  • VentriculomegalyHP:0002119
  • Widened subarachnoid spaceHP:0012704