| Disease ID | Source | Name | Description |
| 617232 | OMIM | Muscular dystrophy, limb-girdle, autosomal recessive 21 (LGMDR21) | A form of autosomal recessive limb-girdle muscular dystrophy, a degenerative myopathy characterized by slowly progressive wasting and weakness of the proximal muscles of arms and legs around the pelvic or shoulder girdles, elevated creatine kinase levels and dystrophic features on muscle biopsy. LGMDR21 is characterized by young-adult onset. The disease is caused by variants affecting the gene represented in this entry. |
| 615696 | OMIM | Dowling-Degos disease 4 (DDD4) | A form of Dowling-Degos disease, a genodermatosis manifesting with postpubertal reticulate hyperpigmentation that is progressive and disfiguring, and small hyperkeratotic dark brown papules that affect mainly the flexures and great skin folds. Patients usually show no abnormalities of the hair or nails. DDD4 is characterized by prominent involvement of non-flexural skin areas. The disease is caused by variants affecting the gene represented in this entry. |