- Cardiomyocyte hypertrophy (HP:0031319): An increase in cell size, enhanced protein synthesis, and heightened organization of the sarcomere within cardiac myocytes. Evidence: PCS. Frequency: 1/1. (PMID:20357282)
- Early young adult onset (HP:0025708): Onset of disease at an age of greater than or equal to 16 to under 19 years. Evidence: PCS. Frequency: 1/1. (PMID:20357282)
- 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: PCS. Frequency: 1/1. Onset: Late young adult onset (HP:0025710). (PMID:20357282)
- Paroxysmal ventricular tachycardia (HP:0004751): Episodes of ventricular tachycardia that have a sudden onset and ending. Evidence: PCS. Frequency: 1/1. Onset: Late young adult onset (HP:0025710). (PMID:20357282)
- Scapular winging (HP:0003691): Abnormal protrusion of the scapula away from the surface of the back. Evidence: PCS. Frequency: 1/1. Onset: Late young adult onset (HP:0025710). (PMID:20357282)
- ST segment elevation (HP:0012251): An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line. Evidence: PCS. Frequency: 1/1. Onset: Early young adult onset (HP:0025708). (PMID:20357282)
- Autosomal recessive inheritance (HP:0000007): 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: PCS. (PMID:20357282)
- 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: PCS. Frequency: 1/1. (PMID:20357282)
- T-wave inversion (HP:0010872): An inversion of the T-wave (which is normally positive). Evidence: PCS. Frequency: 1/1. Onset: Early young adult onset (HP:0025708). (PMID:20357282)
- Type 1 muscle fiber predominance (HP:0003803): An abnormal predominance of type I muscle fibers (in general, this feature can only be observed on muscle biopsy). Evidence: PCS. Frequency: 1/1. (PMID:20357282)
- Muscle weakness (HP:0001324): Reduced strength of muscles. Evidence: PCS. Frequency: 1/1. (PMID:20357282)
These phenotypes are associated with the disease glycogen storage disease XV (OMIM:613507).