Glycogen storage disease IXd

MONDO:0010362

A benign form of phosphorylase kinase deficiency caused by variants in PHKA1, characterized by exercise intolerance, myalgia, muscle cramps, myoglobinuria, and progressive muscle weakness.

Also known as: GSD IXd, GSD due to muscle phosphorylase kinase deficiency, GSD type 9D, GSD type IXd, GSD9D, PHKA1 glycogen storage disease, PHKA1-related glycogen storage disease type IX, glycogen storage disease caused by mutation in PHKA1

1 clinical trial for this condition and its sub-types, 0 tagged with Glycogen storage disease IXd itself.

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↑ Disorder of glycogen metabolism (69)

Including sub-types (1) Tagged with Glycogen storage disease IXd (0)

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