- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: TAS. (OMIM:612932)
- Increased muscle glycogen content (HP:0009051): An increased amount of glycogen in muscle tissue. Evidence: TAS. (OMIM:612932)
- Adult onset (HP:0003581): Onset of disease manifestations in adulthood, defined here as at the age of 16 years or later. Evidence: TAS. (OMIM:612932)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:612932)
- Reduced muscle enolase activity (HP:0034633): Diminished activity of the enzyme enolase in muscle tissue. The enzyme enolase catalyzes the interconversion of 2-phosphoglycerate and phosphoenolpyruvate. In adult human muscle, over 90% of enolase activity is accounted for by the beta-enolase subunit, the protein product of the ENO3 gene. Evidence: PCS. Frequency: 1/1. (PMID:11506403)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. (OMIM:612932)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. (OMIM:612932)
These phenotypes are associated with the disease glycogen storage disease due to muscle beta-enolase deficiency (OMIM:612932).