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Glycogen storage disease due to glycogen debranching enzyme deficiency

ORPHA:366 · Disease · Disorder

HPO 表現型（共 7 項）

Very frequent (99-80%)(6)

  • Full cheeksHP:0000293
  • HypertriglyceridemiaHP:0002155
  • HypoglycemiaHP:0001943
  • ImmunodeficiencyHP:0002721
  • Mild intellectual disabilityHP:0001256
  • Short statureHP:0004322

Frequent (79-30%)(1)

  • MyopathyHP:0003198