glycogen storage disease XV
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.
MONDO:0100314
GYG1-related disorder of glycogen metabolism
is_a
GSD type 15
exact
GSD type XV
exact
GSD with severe cardiomyopathy due to glycogenin deficiency
exact
GSD15
related
glycogen storage disease XV
exact
glycogen storage disease type 15
exact
glycogen storage disease type XV
exact
glycogenosis type 15
exact
glycogenosis type XV
exact
glycogenosis with severe cardiomyopathy due to glycogenin deficiency
exact
SPAC5H10.12c SPBC4C3.08 SPBC4C3.09