- Muscle weakness (HP:0001324, a Human Phenotype Ontology term): Reduced strength of muscles. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:371)
- Anemia (HP:0001903, a Human Phenotype Ontology term): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:371)
- Hyperuricemia (HP:0002149, a Human Phenotype Ontology term): The concentration of uric acid in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:371)
- Myotonia (HP:0002486, a Human Phenotype Ontology term): An involuntary and painless delay in the relaxation of skeletal muscle following contraction or electrical stimulation. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:371)
- Skeletal muscle atrophy (HP:0003202, a Human Phenotype Ontology term): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Frequent (HP:0040282, a Human Phenotype Ontology term). (ORPHA:371)
- Increased muscle glycogen content (HP:0009051, a Human Phenotype Ontology term): An increased amount of glycogen in muscle tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281, a Human Phenotype Ontology term). (ORPHA:371)
These phenotypes are associated with the disease Glycogen storage disease due to muscle phosphofructokinase deficiency (ORPHA:371, an Orphanet rare-disease identifier).