- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: IEA. (OMIM:608807)
- Elevated circulating creatine kinase activity (HP:0003236): The activity of creatine kinase in the blood circulation is above the upper limit of normal. Evidence: PCS. Frequency: 11/11. (PMID:25772186;OMIM:608807)
- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: IEA. (OMIM:608807)
- Difficulty climbing stairs (HP:0003551): Reduced ability to climb stairs. Evidence: PCS. Frequency: 1/1. (PMID:25772186)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: IEA. (OMIM:608807)
- Muscular dystrophy (HP:0003560): The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities. Evidence: IEA. (OMIM:608807)
- Fatty replacement of skeletal muscle (HP:0012548): Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers. Evidence: PCS. Frequency: 1/1. (PMID:25772186)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/1. (PMID:25772186)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: TAS. (OMIM:608807)
- 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:12145747)
- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: PCS. Frequency: 0/1. (PMID:25772186)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 1/1. (PMID:25772186)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: IEA. (OMIM:608807)
- 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. Frequency: 1/1. (PMID:25772186)
These phenotypes are associated with the disease autosomal recessive limb-girdle muscular dystrophy type 2J (OMIM:608807).