- 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: IEA. (OMIM:160010)
- 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:160010)
- Myoglobinuria (HP:0002913): Presence of myoglobin in the urine. Evidence: IEA. (OMIM:160010)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: IEA. (OMIM:160010)
- 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: TAS. (OMIM:160010)
- Myalgia (HP:0003326): Pain in muscle. Evidence: IEA. (OMIM:160010)
These phenotypes are associated with the disease autosomal dominant myoglobinuria (OMIM:160010).