Disease ID | Source | Name | Description |
601287 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 6 (LGMDR6) | An autosomal recessive degenerative myopathy initially affecting the proximal limb girdle musculature. Muscle from patients shows a complete loss of delta-sarcoglycan as well as of the others components of the sarcoglycan complex. The disease is caused by variants affecting the gene represented in this entry. |
606685 | OMIM | Cardiomyopathy, dilated 1L (CMD1L) | A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. The disease is caused by variants affecting the gene represented in this entry. |