Disease phenotype | Item in this table | Key references | Gene symbol (chromosome)
protein | All allelic disease phenotypes - locus/disease symbols |
| Congenital muscular dystrophy with merosin deficient - (AR) | 2.1 | | | laminin alpha 2 chain of merosin
|
|
|  | * Muscular dystrophy, congenital merosin-deficient - MDC1A |
|
| Congenital muscular dystrophy with merosin deficiency - (AR) | 2.2 | | | | * Congenital muscular dystrophy with merosin deficiency - MDC1B |
|
| Congenital muscular dystrophy and abnormal glycosylation of dystroglycan - (AR) | 2.3 | | | | * Muscle-eye-brain disease - MEB | | * Muscular dystrophy, congenital, 1C - MDC1C | | * Muscular dystrophy, limb-girdle, type 2I - LGMD2I | | * Walker-Warburg syndrome - WWS3 |
|
| Congenital muscular dystrophy and abnormal glycosylation of dystroglycan - (AR) | 2.4 | | | | * Congenital muscular dystrophy with severe mental retardation - MDC1D |
|
| Fukuyama congenital muscular dystrophy - (AR) | 2.5 | | | | * fukuyama congenital muscular dystrophy - FCMD | | * Limb-girdle, muscular dystrophy, type 2m - LGMD2M | | * Walker-warburg syndrome - WWS |
|
| Walker-Warburg syndrome - (AR) | 2.6 | | | | * fukuyama congenital muscular dystrophy - FCMD | | * Limb-girdle, muscular dystrophy, type 2m - LGMD2M | | * Walker-warburg syndrome - WWS |
|
| Walker-Warburg syndrome - (AR) | 2.7 | | | Protein-O-mannosyltransferase 1
|
|
| | * Muscular dystrophy, Limb-Girdle, type 2K - LGMD2K | | * Walker-Warburg syndrome - WWS |
|
| Walker-Warburg syndrome - (AR) | 2.8 | | | protein-O-mannosyltransferase 2
|
|
| | * Limb-girdle, muscular dystrophy, type 2n - LGMD2N | | * Muscle-eye-brain disease - MEB | | * Walker-Warburg syndrome - WWS2 |
|
| Walker-Warburg syndrome - (AR) | 2.9 | | | | * Muscle-eye-brain disease - MEB | | * Muscular dystrophy, congenital, 1C - MDC1C | | * Muscular dystrophy, limb-girdle, type 2I - LGMD2I | | * Walker-Warburg syndrome - WWS3 |
|
| Walker-Warburg syndrome - (AR) | 2.10 | | | O-linked mannose beta1,2-N-acetylglucosaminyltransferase
|
|
| | * Limb-girdle, muscular dystrophy, type 2o - LGMD2O | | * Muscle-eye-brain disease - MEB | | * Walker-Warburg syndrome - WWS |
|
| Muscle-eye-brain disease - (AR) | 2.11 | | | O-linked mannose beta1,2-N-acetylglucosaminyltransferase
|
|
| | * Limb-girdle, muscular dystrophy, type 2o - LGMD2O | | * Muscle-eye-brain disease - MEB | | * Walker-Warburg syndrome - WWS |
|
| Muscle-eye-brain disease - (AR) | 2.12 | | | | * Muscle-eye-brain disease - MEB | | * Muscular dystrophy, congenital, 1C - MDC1C | | * Muscular dystrophy, limb-girdle, type 2I - LGMD2I | | * Walker-Warburg syndrome - WWS3 |
|
| Muscle-eye-brain disease - (AR) | 2.13 | | | protein-O-mannosyltransferase 2
|
|
| | * Limb-girdle, muscular dystrophy, type 2n - LGMD2N | | * Muscle-eye-brain disease - MEB | | * Walker-Warburg syndrome - WWS2 |
|
| Rigid spine syndrome - (AR) | 2.14 | | | | * Desmin-related myopathy with Mallory bodies - RSMD1 | | * Multiminicore disease, classical form | | * Muscular dystrophy, rigid spine, 1 - MDRS1 | | * myopathy, congenital, with fiber-type disproportion - CFTD | | * Rigid spine syndrome - RSS |
|
| Rigid spine syndrome - (AR) | 2.15 | | | four and a half LIM domain 1
|
|
| | * Emery-dreifuss muscular dystrophy 6 - EDMD6 | | * Myopathy, reducing body, X-linked, childhood-onset | | * Myopathy, reducing body, X-linked, severe early-onset | | * rigid spine muscular dystrophy 1 - RSMD1 | | * Scapuloperoneal myopathy - XPMD | | * X-linked myopathy with postural muscle atrophy - XMPMA |
|
| Ullrich syndrome - (AR) | 2.16 | | | | * Bethlem myopathy | | * Ullrich congenital muscular dystrophy - UCMD |
|
| Ullrich syndrome - (AR) | 2.17 | | | | * Bethlem myopathy | | * myosclerosis, autosomal recessive | | * Ullrich scleroatonic muscular dystrophy - UCMD |
|
| Ullrich syndrome - (AR) | 2.18 | | | | * Bethlem myopathy | | * Ullrich congenital muscular dystrophy - UCMD |
|
| Bethlem myopathy - (AD) | 2.19 | | | | * Bethlem myopathy | | * Ullrich congenital muscular dystrophy - UCMD |
|
| Bethlem myopathy - (AD) | 2.20 | | | | * Bethlem myopathy | | * myosclerosis, autosomal recessive | | * Ullrich scleroatonic muscular dystrophy - UCMD |
|
| Bethlem myopathy - (AD) | 2.21 | | | | * Bethlem myopathy | | * Ullrich congenital muscular dystrophy - UCMD |
|
| Bethlem myopathy (recessive) - (AR) | 2.22 | | | | * Bethlem myopathy | | * myosclerosis, autosomal recessive | | * Ullrich scleroatonic muscular dystrophy - UCMD |
|
| Myosclerosis - (AR) | 2.23 | | | | * Bethlem myopathy | | * myosclerosis, autosomal recessive | | * Ullrich scleroatonic muscular dystrophy - UCMD |
|
| Congenital muscular dystrophy with integrin defect - (AR) | 2.24 | | | integrin alpha 7 precursor
|
|
| | * Congenital muscular dystrophy with integrin defect |
|
| Congenital muscular dystrophy with dynamin 2 defect - (AD) | 2.25 | | | | * centronuclear myopathy, dominant - CNM |
|
| Congenital musuclar dystrophy with telethonin defect - (AR) | 2.26 | | | | * Congenital musuclar dystrophy with telethonin defect | | * Dilated cardiomyopathy, 1N | | * Muscular dystrophy, limb-girdle, type 2G - LGMD2G |
|
| Congenital muscle dystrophy with joint hyperlaxity - (AR) | 2.27 | | | | * Congenital muscle dystrophy with joint hyperlaxity |
|
| Congenital muscle dystrophy with mitochondrial structural abnormalities (megaconial type) - (AR) | 2.28 | | | | * Congenital muscle dystrophy with mitochondrial structural abnormalities - MDCMC |
|
