Catalog
Disorders of cholesterol synthesis
Link to WHO Definition
Disorders of cholesterol synthesis – http://id.who.int/icd/entity/210624950
Parents
Children
- Chondrodysplasia punctata, X-linked dominant
- Smith-Lemli-Opitz syndrome
- Lathosterolosis
- Greenberg dysplasia
- Congenital hemidysplasia with ichthyosiform erythroderma and limbs defects
- Desmosterolosis
- Hyperalphalipoproteinaemia due to cholesteryl ester transfer protein deficiency
- Mevalonate kinase deficiency