| Muscular dystrophies |
| Dystrophinopathies (Duchenne and Becker muscular dystrophy) |
| Classic form of congenital muscular dystrophy |
| With merosin deficiency |
| Without merosin deficiency |
| Congenital muscular dystrophy-dystroglycanopathy with central nervous system abnormalities |
| Walker-Warburg disease |
| Muscle-eye-brain disease |
| Fukuyama disease |
| Congenital muscular dystrophy with cerebellar atrophy/hypoplasia |
| Congenital muscular dystrophy with occipital argyria |
| Early infantile facioscapulohumeral dystrophy |
| Congenital myotonic dystrophy |
| Metabolic disorders |
| Congenital disorders of glycosylation |
| Disorders of creatine metabolism |
| Disorders of glycogen metabolism |
| Acid maltase deficiency |
| Severe neonatal phosphofructokinase deficiency |
| Severe neonatal phosphorylase deficiency |
| Debrancher deficiency |
| Mitochondrial myopathies |
| Cytochrome c oxidase deficiency |
| Organic acidemias |
| Peroxisomal disorders |
| Neonatal adrenoleukodystrophy |
| Cerebrohepatorenal syndrome (Zellweger) |
| Primary carnitine deficiency |
| Urea cycle defects |
