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Glycogen storage disease due to acid maltase deficiency, infantile onset

ORPHA:308552 · Clinical subtype · Subtype of disorder

HPO 表現型（共 35 項）

Very frequent (99-80%)(17)

  • Abnormal circulating enzyme concentration or activityHP:0012379
  • CardiomegalyHP:0001640
  • Delayed ability to sitHP:0025336
  • Delayed ability to standHP:0025335
  • Elevated circulating alanine aminotransferase concentrationHP:0031964
  • Elevated circulating creatine kinase activityHP:0003236
  • Failure to thriveHP:0001508
  • Feeding difficulties in infancyHP:0008872
  • Floppy infantHP:0008947
  • HepatomegalyHP:0002240
  • Hypertrophic cardiomyopathyHP:0001639
  • Increased circulating lactate dehydrogenase concentrationHP:0025435
  • Left ventricular hypertrophyHP:0001712
  • Left ventricular outflow tract obstructionHP:0032092
  • Multifocal hyperintensity of cerebral white matter on MRIHP:0040329
  • Muscle weaknessHP:0001324
  • OligosacchariduriaHP:0010471

Frequent (79-30%)(16)

  • AreflexiaHP:0001284
  • Facial hypotoniaHP:0000297
  • Generalized muscle weaknessHP:0003324
  • Heart murmurHP:0030148
  • Low-output congestive heart failureHP:0009805
  • MacroglossiaHP:0000158
  • Motor delayHP:0001270
  • Proximal muscle weaknessHP:0003701
  • Respiratory distressHP:0002098
  • Respiratory failureHP:0002878
  • Respiratory failure requiring assisted ventilationHP:0004887
  • Respiratory insufficiencyHP:0002093
  • Respiratory insufficiency due to muscle weaknessHP:0002747
  • Respiratory tract infectionHP:0011947
  • Shortened PR intervalHP:0005165
  • Tongue muscle weaknessHP:0000183

Occasional (29-5%)(2)

  • Hearing impairmentHP:0000365
  • Intellectual disabilityHP:0001249