- Muscle hypertrophy of the lower extremities (HP:0008968): Muscle hypertrophy primarily affecting the legs. Evidence: PCS. Frequency: 3/12. (PMID:39970126)
- Centrally nucleated skeletal muscle fibers (HP:0003687): An abnormality in which the nuclei of sarcomeres take on an abnormally central localization (or in which this feature is found in an increased proportion of muscle cells). Evidence: PCS. Frequency: 2/2. (PMID:39970126)
- 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: 3/5. (PMID:39970126)
- Juvenile onset (HP:0003621): Onset of signs or symptoms of disease between the age of 5 and 15 years. Evidence: PCS. Frequency: 8/14. (PMID:39970126)
- Middle age onset (HP:0003596): A type of adult onset with onset of symptoms at the age of 40 to 60 years. Evidence: PCS. Frequency: 1/14. (PMID:39970126)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: PCS. Frequency: 4/9. (PMID:39970126)
- Late onset (HP:0003584): A type of adult onset with onset of symptoms after the age of 60 years. Evidence: PCS. Frequency: 1/14. (PMID:39970126)
- Distal muscle weakness (HP:0002460): Reduced strength of the musculature of the distal extremities. Evidence: PCS. Frequency: 6/11. (PMID:39970126)
- Fatty replacement of skeletal muscle (HP:0012548): Muscle fibers degeneration resulting in fatty replacement of skeletal muscle fibers. Evidence: PCS. Frequency: 1/2. (PMID:39970126)
- Acute kidney injury (HP:0001919): Sudden loss of renal function, as manifested by decreased urine production, and a rise in serum creatinine or blood urea nitrogen concentration (azotemia). Evidence: PCS. Frequency: 4/4. (PMID:39970126)
- Increased muscle glycogen content (HP:0009051): An increased amount of glycogen in muscle tissue. Evidence: PCS. Frequency: 1/1. (PMID:39970126)
- 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: 1/14. (PMID:39970126)
- Exercise-induced rhabdomyolysis (HP:0009045): Rhabdomyolysis induced by exercise. Evidence: PCS. Frequency: 3/3. (PMID:39970126)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/14. (PMID:39970126)
- Young adult onset (HP:0011462): Onset of disease at the age of between 16 and 40 years. Evidence: PCS. Frequency: 2/14. (PMID:39970126)
- Upper limb muscle hypertrophy (HP:0040265): Abnormal increase in muscle size and mass of one or both arms not due to training. Evidence: PCS. Frequency: 0/12. (PMID:39970126)
- Myoglobinuria (HP:0002913): Presence of myoglobin in the urine. Evidence: PCS. Frequency: 15/15. (PMID:39970126)
- Viral infection-induced rhabdomyolysis (HP:0003558): Rhabdomyolysis induced by a viral infection. Evidence: PCS. Frequency: 8/8. (PMID:39970126)
- Proximal muscle weakness (HP:0003701): A lack of strength of the proximal muscles. Evidence: PCS. Frequency: 11/11. (PMID:39970126)
- Acute rhabdomyolysis (HP:0008942): An acute form of rhabdomyolysis. Evidence: PCS. Frequency: 19/19. (PMID:39970126)
- Autosomal dominant inheritance (HP:0000006): 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: PCS. (PMID:39970126)
- Myalgia (HP:0003326): Pain in muscle. Evidence: PCS. Frequency: 16/16. (PMID:39970126)
These phenotypes are associated with the disease rhabdomyolysis, susceptibility to, 2 (OMIM:621236).