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 |