- Gait disturbance (HP:0001288): The term gait disturbance can refer to any disruption of the ability to walk. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Recurrent myoglobinuria (HP:0003652): Recurring episodes of myoglobinuria, i.e., of the presence of myoglobin in the urine. This is usually a consequence of rhabdomyolysis, i.e., of the destruction of muscle tissue. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:99845)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99845)
- Fever (HP:0001945): Body temperature elevated above the normal range. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99845)
- Highly elevated creatine kinase (HP:0030234): An increased CPK level between 4X and 50X above the upper normal level. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99845)
- Dark urine (HP:0040319): An abnormal dark color of the urine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:99845)
- 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: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Diminished deep tendon reflex (HP:0001315): A reduction (hyporeflexia) or complete absence (areflexia) of the involuntary muscle contraction normally elicited by a reflex stimulus, such as tapping a deep tendon. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Type 2 muscle fiber atrophy (HP:0003554): Atrophy (wasting) affecting primary type 2 muscle fibers. This feature in general can only be observed on muscle biopsy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Viral infection-induced rhabdomyolysis (HP:0003558): Rhabdomyolysis induced by a viral infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Exercise-induced myalgia (HP:0003738): The occurrence of an unusually high amount of muscle pain following exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Exercise-induced myoglobinuria (HP:0008305): Presence of myoglobin in the urine following exercise. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Abnormality of glycolipid metabolism (HP:0010969): An abnormality of glycolipid metabolism. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Elevated circulating aldolase concentration (HP:0012544): Concentration of fructose 1,6-bisphosphate aldolase in the blood circulation above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Increased circulating lactate dehydrogenase concentration (HP:0025435): An elevated level of the enzyme lactate dehydrogenase in the blood circulation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Myositis (HP:0100614): A general term for inflammation of the muscles without respect to the underlying cause. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:99845)
- Neck muscle weakness (HP:0000467): Decreased strength of the neck musculature. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- 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: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Hyperkalemia (HP:0002153): The concentration of potassium(1+) in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Abnormal speech pattern (HP:0002167): An abnormality in the sound (volume) or cadence (rate) of speech. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Hyperphosphatemia (HP:0002905): The concentration of phosphate ion in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Impaired mastication (HP:0005216): An abnormal reduction in the ability to masticate (chew), i.e., in the ability to crush and ground food in preparation for swallowing. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Lower limb muscle weakness (HP:0007340): Weakness of the muscles of the legs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Proximal upper limb muscle weakness (HP:0008997): A lack of strength of the proximal muscles of the arms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Fatigable weakness of swallowing muscles (HP:0030195): A type of weakness of the muscles involved in swallowing that occurs after a muscle group is used and lessens if the muscle group has some rest. That is, there is diminution of strength with repetitive muscle actions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Abnormality of jaw muscles (HP:0045037). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Oliguria (HP:0100520): Low output of urine, clinically classified as an output below 300-500ml/day. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:99845)
- Disseminated intravascular coagulation (HP:0005521): Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:99845)
These phenotypes are associated with the disease Genetic recurrent myoglobinuria (ORPHA:99845).