| Disease ID | Source | Name | Description |
| 618655 | OMIM | Myopathy, distal, 6, adult onset, autosomal dominant (MPD6) | An autosomal dominant muscular disorder characterized by adult onset of asymmetric distal muscle weakness, primarily affecting the lower limbs and resulting in gait difficulties. Some patients develop involvement of proximal and upper limb muscles. The disease is caused by variants affecting the gene represented in this entry. |
| 612158 | OMIM | Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) | 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. |
| 612158 | OMIM | Cardiomyopathy, familial hypertrophic 23, with or without left ventricular non-compaction (CMH23) | 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. |
| 618654 | OMIM | Myopathy, congenital, with structured cores and Z-line abnormalities (MYOCOZ) | An autosomal dominant muscular disorder characterized by progressive early-onset muscle weakness, gait difficulties, loss of ambulation, and respiratory insufficiency. Morphological and ultrastructural analyses of muscle biopsies reveal type 1 fiber predominance, multiple structured cores forming a circular arrangement beneath the sarcolemma, and jagged Z-lines. The disease is caused by variants affecting the gene represented in this entry. |