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

ORPHA308698
Synonym(s) GBE deficiency, childhood neuromuscular form
GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form
GSD type 4, childhood neuromuscular form
GSDIV, childhood neuromuscular form
Glycogen storage disease type 4, childhood neuromuscular form
Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogenosis type 4, childhood 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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