- Hypertriglyceridemia (HP:0002155): An abnormal increase in the level of triglycerides in the blood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79240)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79240)
- Postnatal growth retardation (HP:0008897): Slow or limited growth after birth. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79240)
- Abnormal circulating enzyme concentration or activity (HP:0012379): Concentration or activity of an enzyme is above or below the limits of normal in the blood circulation. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79240)
- Hepatic fibrosis (HP:0001395): The presence of excessive fibrous connective tissue in the liver. Fibrosis is a reparative or reactive process. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79240)
- 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:79240)
- Hypercholesterolemia (HP:0003124): An increased concentration of cholesterol in the blood. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79240)
- Fasting hypoglycemia (HP:0003162). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79240)
- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Oligomenorrhea (HP:0000876): Infrequent menses (less than 6 per year or more than 35 days between cycles). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Hypotonia (HP:0001252): Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Cirrhosis (HP:0001394): A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Renal tubular acidosis (HP:0001947): Acidosis owing to malfunction of the kidney tubules with accumulation of metabolic acids and hyperchloremia, potentially leading to complications including hypokalemia, hypercalcinuria, nephrolithiasis and nephrocalcinosis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Recurrent hypoglycemia (HP:0001988): Recurrent episodes of decreased concentration of glucose in the blood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Delayed gross motor development (HP:0002194): A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- 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. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Progressive muscle weakness (HP:0003323). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Limb-girdle muscle weakness (HP:0003325): Weakness of the limb-girdle muscles (also known as the pelvic and shoulder girdles), that is, lack of strength of the muscles around the shoulders and the pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Myalgia (HP:0003326): Pain in muscle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Muscle spasm (HP:0003394): Sudden and involuntary contractions of one or more muscles. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Exercise intolerance (HP:0003546): A functional motor deficit where individuals whose responses to the challenges of exercise fail to achieve levels considered normal for their age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Pelvic girdle muscle weakness (HP:0003749): Weakness of the muscles of the pelvic girdle (also known as the hip girdle), that is, lack of strength of the muscles around the pelvis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Mild global developmental delay (HP:0011342): A mild delay in the achievement of motor or mental milestones in the domains of development of a child. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Fatigue (HP:0012378): A subjective feeling of tiredness characterized by a lack of energy and motivation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Ketotic hypoglycemia (HP:0012734): Low blood glucose is accompanied by elevated levels of ketone bodies in the body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Dysmenorrhea (HP:0100607): Pain during menstruation that interferes with daily activities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79240)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Nausea (HP:0002018): A sensation of unease in the stomach together with an urge to vomit. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Myoglobinuria (HP:0002913): Presence of myoglobin in the urine. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Lactic acidosis (HP:0003128): An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Rhabdomyolysis (HP:0003201): Breakdown of muscle fibers that leads to the release of muscle fiber contents (myoglobin) into the bloodstream. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Increased body weight (HP:0004324): Abnormally increased body weight. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
- Hepatocellular adenoma (HP:0012028): A benign tumor of the liver of presumably epithelial origin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79240)
These phenotypes are associated with the disease Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency (ORPHA:79240).