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Isolated glycerol kinase deficiency

ORPHA:408 · Disease · Disorder

HPO 表現型（共 17 項）

Very frequent (99-80%)(11)

  • Abnormal speech patternHP:0002167
  • Adrenocortical hypoplasiaHP:0008182
  • Diminished deep tendon reflexHP:0001315
  • Elevated circulating creatine kinase activityHP:0003236
  • EMG abnormalityHP:0003457
  • Global developmental delayHP:0001263
  • HypotoniaHP:0001252
  • Intellectual disabilityHP:0001249
  • Metabolic acidosisHP:0001942
  • MyopathyHP:0003198
  • Short statureHP:0004322

Frequent (79-30%)(6)

  • CryptorchidismHP:0000028
  • EEG abnormalityHP:0002353
  • HyperlordosisHP:0003307
  • OsteoporosisHP:0000939
  • ScoliosisHP:0002650
  • SeizureHP:0001250