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Glycogen storage disease due to phosphoglucomutase deficiency

ORPHA:711

  • Synonym(s):
    • GSD due to phosphoglucomutase deficiency
    • GSD type 14
    • GSDXIV
    • Glycogen storage disease type 14
    • Glycogen storage disease type XIV
    • Glycogenosis due to phosphoglucomutase deficiency
    • Glycogenosis type 14
    • Glycogenosis type XIV
    • Phosphoglucomutase 1 deficiency
  • Prevalence: -
  • Inheritance: -
  • Age of onset: -
  • ICD-10: E77.8
  • OMIM: 614921
  • UMLS: C2752015
  • MeSH: -
  • GARD: 4329
  • MedDRA: -

Summary

This entity has been excluded from the Orphanet nomenclature of rare diseases and moved to PGM1-CDG

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

Newborn screening

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