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Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form

Orpha number ORPHA308684
Synonym(s) GBE deficiency, childhood combined hepatic and myopathic form
GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
GSD type 4, childhood combined hepatic and myopathic form
GSDIV, childhood combined hepatic and myopathic form
Glycogen storage disease type 4, childhood combined hepatic and myopathic form
Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogenosis type 4, childhood combined hepatic and myopathic form
Prevalence -
Inheritance -
Age of onset -
ICD-10
  • E74.0
OMIM
UMLS
  • C0017922
MeSH -
MedDRA
  • 10053250
SNOMED CT
  • 66937008

Summary

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.


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