| Multiple congenital anomaly syndromes |
| Noonan syndrome |
| LEOPARD syndrome |
| Beckwith-Wiedemann syndrome |
| Cardiofacialcutaneous syndrome |
| Rubinstein-Taybi syndrome |
| Costello syndrome |
| Inborn errors of metabolism |
| Glycogen storage diseases: |
| Pompe disease (glycogen storage disease type II) |
| Forbes disease (glycogen storage disease type III, also known as Cori disease) |
| Phosphorylase kinase deficiency (glycogen storage disease type IX) |
| Carnitine deficiency: |
| Carnitine palmitoyltransferase type II deficiency |
| Carnitine-acylcarnitine translocase deficiency |
| Mucopolysaccharidoses: |
| Hurler syndrome (mucopolysaccharidosis type I) |
| Hunter syndrome (mucopolysaccharidosis type II) |
| Morquio syndrome |
| Scheie syndrome |
| Other lysosomal diseases: |
| Danon disease |
| Fucosidosis |
| I-cell disease |
| Fabry disease |
| Mannosidosis |
| Organic acidurias: |
| Methylmalonic aciduria |
| Barth syndrome (3-methylglutaconic aciduria, type II) |
| Glycosylation disorders (eg, phosphomannomutase 2 deficiency) |
| Congenital generalized lipodystrophy |
| Mitochondrial disorders |
| MELAS syndrome |
| Leigh syndrome |
| Complex I deficiency |
| Sengers syndrome |
| Defects of beta-oxidation enzymes: |
| Very long chain acyl-CoA dehydrogenase deficiency |
| Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency |
| Multiple acyl-COA dehydrogenase deficiency |
| Combined respiratory chain deficiencies |
| Neuromuscular disorders |
| Friedreich ataxia |
| Myotonic dystrophy |
| Minicore (multicore) myopathy |
