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 |