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

ORPHA308670
Synonym(s) GBE deficiency, congenital neuromuscular form
GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form
GSD type 4, congenital neuromuscular form
GSDIV, congenital neuromuscular form
Glycogen storage disease type 4, congenital neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogenosis type 4, congenital neuromuscular form
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • E74.0
OMIM
UMLS -
MeSH -
MedDRA -

Summary

This disease is described under Glycogen storage disease due to glycogen branching enzyme deficiency


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