| Disease ID | Source | Name | Description |
| 601954 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 7 (LGMDR7) | An autosomal recessive degenerative myopathy characterized by proximal and distal muscle weakness and atrophy in the limbs, dystrophic changes on muscle biopsy, and absence of telethonin. Cardiac muscle is involved in a subset of patients. The disease is caused by variants affecting the gene represented in this entry. |
| 607487 | OMIM | Cardiomyopathy, familial hypertrophic 25 (CMH25) | A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. The disease is caused by variants affecting the gene represented in this entry. |