No test is available.
Appropriate tests are currently under development.
Clinical Description Symptoms include general growth retardation, developmental delay, and a variety of malformations. Poor feeding is observed in even mildly affected individuals. Most defects are thought to result from a lack of sufficient cholesterol during development. Severity ranges from prenatal mortality to mild involvement allowing school attendance. Incidence 1in 20,000 or higher in Europe, the United States and Canada.