- Highly elevated creatine kinase (HP:0030234): An increased CPK level between 4X and 50X above the upper normal level. Evidence: PCS. (PMID:31610034)
- Calf muscle hypertrophy (HP:0008981): Muscle hypertrophy affecting the calf muscles. Evidence: PCS. (PMID:31610034)
- Difficulty running (HP:0009046): Reduced ability to run. Evidence: PCS. (PMID:31610034)
- Proximal lower limb muscle weakness (HP:0008994): A lack of strength of the proximal muscles of the legs. Evidence: PCS. Onset: Young adult onset (HP:0011462). (PMID:31610034)
- 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: PCS. (PMID:31610034)
- Fatty replacement of skeletal muscle (HP:0012548): Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers. Evidence: PCS. (PMID:31610034)
- Falls (HP:0002527). Evidence: PCS. (PMID:31610034)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. (PMID:31610034)
- Muscle fiber necrosis (HP:0003713): Abnormal cell death involving muscle fibers usually associated with break in, or absence of, muscle surface fiber membrane and resulting in irreversible damage to muscle fibers. Evidence: PCS. (PMID:31610034)
- Increased variability in muscle fiber diameter (HP:0003557): An abnormally high degree of muscle fiber size variation. This phenotypic feature can be observed upon muscle biopsy. Evidence: PCS. (PMID:31610034)
These phenotypes are associated with the disease muscular dystrophy, limb-girdle, autosomal recessive 26 (OMIM:618848).