| Disease ID | Source | Name | Description |
| 253700 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 5 (LGMDR5) | An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining. The disease is caused by variants affecting the gene represented in this entry. |