- Decreased liver function (HP:0001410): Reduced ability of the liver to perform its functions. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:367)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:367)
- Generalized abnormality of skin (HP:0011354): An abnormality of the skin that is not localized to any one particular region. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:367)
- Abnormal muscle glycogen content (HP:0012269): Any anomaly in the amount of glycogen in muscle tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:367)
- Abnormal cardiomyocyte morphology (HP:0031331): Any structural anomaly of cardiomyocytes, which are terminally differentiated muscle cells in the heart that are interconnected end to end by gap junctions, which allows coordinated contraction of heart tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:367)
- Abnormal neuron branching (HP:0500032): Abnormality of the structure and branching of the dendrites of a neuron. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:367)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:367)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:367)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:367)
- Dilated cardiomyopathy (HP:0001644): Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular dilatation and left ventricular systolic dysfunction in the absence of abnormal loading conditions (hypertension, valve disease) or coronary artery disease sufficient to cause global systolic impairment. Right ventricular dilation and dysfunction may be present but are not necessary for the diagnosis. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:367)
- 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:367)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:367)
- Myopathy (HP:0003198): A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:367)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- 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:367)
- Hepatic failure (HP:0001399). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Portal hypertension (HP:0001409): Increased pressure in the portal vein. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Hepatosplenomegaly (HP:0001433): Simultaneous enlargement of the liver and spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Polyhydramnios (HP:0001561): The presence of excess amniotic fluid in the uterus during pregnancy. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Congestive heart failure (HP:0001635): The presence of an abnormality of cardiac function that is responsible for the failure of the heart to pump blood at a rate that is commensurate with the needs of the tissues or a state in which abnormally elevated filling pressures are required for the heart to do so. Heart failure is frequently related to a defect in myocardial contraction. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Nonimmune hydrops fetalis (HP:0001790): A type of hydrops fetalis in which there is no identifiable circulating antibody to red blood cell antigens . Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Fetal akinesia sequence (HP:0001989): Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Esophageal varix (HP:0002040): Extreme dilation of the submucusoal veins in the lower portion of the esophagus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Respiratory insufficiency (HP:0002093). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Prolonged partial thromboplastin time (HP:0003645): Increased time to coagulation in the partial thromboplastin time (PTT) test, a measure of the intrinsic and common coagulation pathways. Phospholipid, and activator, and calcium are mixed into an anticoagulated plasma sample, and the time is measured until a thrombus forms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Severe muscular hypotonia (HP:0006829): A severe degree of muscular hypotonia characterized by markedly reduced muscle tone. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
- Prolonged prothrombin time (HP:0008151): Increased time to coagulation in the prothrombin time test, which is a measure of the extrinsic pathway of coagulation. The results of the prothrombin time test are often expressed in terms of the International normalized ratio (INR), which is calculated as a ratio of the patient's prothrombin time (PT) to a control PT standardized for the potency of the thromboplastin reagent developed by the World Health Organization (WHO) using the formula: INR is equal to Patient PT divided by Control PT. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:367)
These phenotypes are associated with the disease Glycogen storage disease due to glycogen branching enzyme deficiency (ORPHA:367).