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Oxoglutaric aciduria

ORPHA:31 · Disease · Disorder

HPO 表現型（共 10 項）

Very frequent (99-80%)(7)

  • Abnormal urine alpha-ketoglutarate concentrationHP:0012401
  • Abnormality of Krebs cycle metabolismHP:0000816
  • AtaxiaHP:0001251
  • Global developmental delayHP:0001263
  • HypertoniaHP:0001276
  • Short statureHP:0004322
  • Skeletal muscle atrophyHP:0003202

Frequent (79-30%)(3)

  • Abnormal salivary gland morphologyHP:0010286
  • Abnormality of movementHP:0100022
  • HydrocephalusHP:0000238