Human genes for glycogen storage disease IXa
Glycogen storage disease IXa [DOID:0111042]
A glycogen storage disease IX characterized by hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has_material_basis_in X-linked inheritance of mutation in the PHKA2 gene on chromosome Xp22.
Synonyms: glycogen storage disease IXa, DOID:0111042, glycogen storage disease IXas, glycogenosis type 9A, glycogenosis type IXa ...