- Cardiomyopathy (HP:0001638): A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Ventricular fibrillation (HP:0001663): Uncontrolled contractions of muscles fibers in the left ventricle not producing contraction of the left ventricle. Ventricular fibrillation usually begins with a ventricular premature contraction and a short run of rapid ventricular tachycardia degenerating into uncoordinating ventricular fibrillations. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Ventricular hypertrophy (HP:0001714): Enlargement of the cardiac ventricular muscle tissue with increase in the width of the wall of the ventricle and loss of elasticity. Ventricular hypertrophy is clinically differentiated into left and right ventricular hypertrophy. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Palpitations (HP:0001962): A sensation that the heart is pounding or racing, which is a non-specific sign but may be a manifestation of arrhythmia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Vertigo (HP:0002321): An abnormal sensation of spinning while the body is actually stationary. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Exertional dyspnea (HP:0002875): Perceived difficulty to breathe that occurs with exercise or exertion and improves with rest. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Decreased muscle mass (HP:0003199). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- EMG: myopathic abnormalities (HP:0003458): The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Upper limb muscle weakness (HP:0003484): Weakness of the muscles of the arms. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Shoulder girdle muscle weakness (HP:0003547): The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Neck flexor weakness (HP:0003722): Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Ventricular tachycardia (HP:0004756): A tachycardia originating in the ventricles characterized by rapid heart rate (over 100 beats per minute) and broad QRS complexes (over 120 ms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Ventricular septal hypertrophy (HP:0005144): The dividing wall between left and right sides of the heart, thickens and bulges into the left ventricle. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Abdominal wall muscle weakness (HP:0009023): Decreased strength of the abdominal musculature. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Foot dorsiflexor weakness (HP:0009027): Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards the shin. The foot dorsiflexors include the tibialis anterior, the extensor hallucis longus, the extensor digitorum longus, and the peroneus tertius muscles. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- T-wave inversion (HP:0010872): An inversion of the T-wave (which is normally positive). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- 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: Frequent (HP:0040282). (ORPHA:263297)
- Complete right bundle branch block (HP:0011712): A conduction block of the right branch of the bundle of His. This manifests as a prolongation of the QRS complex (greater than 0.12 s) with delayed activation of the right ventricle and terminal delay on the EKG. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- ST segment elevation (HP:0012251): An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Decreased muscle glycogen content (HP:0012270): A decreased amount of glycogen in muscle tissue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Cardiomyocyte hypertrophy (HP:0031319): An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
- Increased mitochondrial number (HP:0040014). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:263297)
These phenotypes are associated with the disease Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency (ORPHA:263297).
The following phenotypes are NOT associated with this disease:
- Diabetes mellitus (HP:0000819): A group of abnormalities characterized by hyperglycemia and glucose intolerance. Evidence: TAS. (ORPHA:263297)
- Hypothyroidism (HP:0000821): Deficiency of thyroid hormone. Evidence: TAS. (ORPHA:263297)
- Abnormal circulating creatine kinase activity (HP:0040081): Any deviation from the normal activity of creatine kinase in the blood circulation. Evidence: TAS. (ORPHA:263297)