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Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form

ORPHA:308655

  • Synonym(s):
    • GBE deficiency, fatal perinatal neuromuscular form
    • GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
    • GSD type 4, fatal perinatal neuromuscular form
    • GSDIV, fatal perinatal neuromuscular form
    • Glycogen storage disease type 4, fatal perinatal neuromuscular form
    • Glycogen storage disease type IV, fatal perinatal neuromuscular form
    • Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
    • Glycogenosis type 4, fatal perinatal neuromuscular form
    • Glycogenosis type IV, fatal perinatal neuromuscular form
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: E74.0
  • OMIM: 232500
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Additional information

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