Disease table
Disease phenotype | OMIM | Gene symbol (chromosome) protein |
| Ullrich congenital muscular dystrophy (2.2, 2.6, 1.51, 1.22) | 254090 | COL6A1 (21q22.3) Alpha 1 type VI collagen       |
| Ullrich congenital muscular dystrophy (2.8, 2.4, 1.53, 1.24) | 254090 | COL6A3 (2q37) Alpha 3 type VI collagen |
| Ullrich congenital muscular dystrophy 2 (2.9, 2.10, 2.11) | 616470 | COL12A1 (6q13-q14) Collagen type XII alpha 1 chain |
| Ullrich scleroatonic muscular dystrophy (2.5, 2.7, 2.12, 1.52, 1.23) | 254090 | COL6A2 (21q22.3) Alpha 2 type VI collagen |