Glycogen storage disease due to liver phosphorylase kinase deficiency

MONDO:0020693

A benign form of phosphorylase kinase deficiency caused by variants in PHKA2 or PHKG2 and characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood.

3 clinical trials for this condition and its sub-types, 0 tagged with Glycogen storage disease due to liver phosphorylase kinase deficiency itself.

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↑ Liver disorder (3621) ↑ Disorder of glycogen metabolism (69)

Sub-types of Glycogen storage disease due to liver phosphorylase kinase deficiency

Glycogen storage disease IXa1 2 trials
Glycogen storage disease IXc 2 trials

Including sub-types (3) Tagged with Glycogen storage disease due to liver phosphorylase kinase deficiency (0)

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