| HP:0000007 | Autosomal recessive inheritance | "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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele)." [HPO:curators] |
Show
|
| HP:0001324 | Muscle weakness | "Reduced strength of muscles." [HPO:curators] |
Show
|
| HP:0001638 | Cardiomyopathy | |
Show
|
| HP:0001663 | Ventricular fibrillation | |
Show
|
| HP:0001714 | Ventricular hypertrophy | |
Show
|
| HP:0001962 | Palpitations | |
Show
|
| HP:0002321 | Vertigo | "An abnormal sensation of spinning while the body is actually stationary." [HPO:curators] |
Show
|
| HP:0002460 | Distal muscle weakness | "Reduced strength of the distal musculature." [HPO:curators] |
Show
|
| HP:0002875 | Exertional dyspnea | |
Show
|
| HP:0003199 | Decreased muscle mass | |
Show
|
| HP:0003202 | Amyotrophy | "The presence of muscular atrophy (which is also known as amyotrophy)." [HPO:curators] |
Show
|
| HP:0003325 | Limb-girdle muscle weakness | "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." [HPO:curators] |
Show
|
| HP:0003458 | EMG myopathic abnormalities | "The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials." [HPO:curators] |
Show
|
| HP:0003484 | Upper limb involvement may occur later | |
Show
|
| HP:0003547 | Shoulder girdle muscle weakness | "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." [HPO:curators] |
Show
|
| HP:0003677 | Slow progression | |
Show
|
| HP:0003722 | Neck flexor weakness | "Weakness of the muscles involved in neck flexion (sternocleidomastoid, longus capitus, longus colli, and scalenus anterior)." [HPO:curators] |
Show
|
| HP:0003828 | Variable expressivity | |
Show
|
| HP:0004308 | Ventricular arrhythmia | |
Show
|
| HP:0004756 | Ventricular tachycardia | |
Show
|
| HP:0005144 | Left ventricular septal hypertrophy | |
Show
|
| HP:0009023 | Abdominal wall muscle weakness | |
Show
|
| HP:0009027 | Foot dorsiflexor weakness | |
Show
|
| HP:0010872 | EKG: T-wave inversion | "An inversion of the T-wave (which is normally positive)." [HPO:probinson] |
Show
|
| HP:0011712 | Right bundle branch block | "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." [DDD:dbrown, HPO:probinson] |
Show
|
| HP:0012251 | ST segment elevation | "An electrocardiographic anomaly in which the ST segment is observed to be located superior to the isoelectric line." [HPO:probinson] |
Show
|
| HP:0012270 | Decreased muscle glycogen content | "A decreased amount of glycogen in muscle tissue." [HPO:probinson] |
Show
|
| HP:0031319 | Cardiomyocyte hypertrophy | "An abnormal increase in the volume of cardiac myocytes." [PMID:7626345] |
Show
|
| HP:0040014 | Increased mitochondrial number | |
Show
|
