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GTR Home > Conditions/Phenotypes > Glycogen storage disease XV

Glycogen storage disease XV

Synonyms
GLYCOGENIN DEFICIENCY; GSD XV
Modes of inheritance
Autosomal recessive inheritance (Orphanet)

Summary

Glycogen storage disease type 15 is an extremely rare genetic glycogen storage disease reported in one patient to date. Clinical signs included muscle weakness, cardiac arrhythmia associated with accumulation of abnormal storage material in the heart and glycogen depletion in skeletal muscle. [from ORDO]

Available tests

39 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (39 available)

Biochemical Genetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: GSD15, GYG, GYG1
    Summary: glycogenin 1

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

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