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Smith-Lemli-Opitz syndrome
What are the causes?
The enzyme 7-dehydrocholesterol reductase normally drives the conversion of the chemical called 7-dehydrocholesterol to cholesterol. Therefore, deficiency of the enzyme leads to increased 7-dehydrocholesterol level and simultaneously restricts the body's ability to produce cholesterol. Although increased cholesterol in the blood leads to heart disease in adult life, cholesterol is also an essential chemical that governs normal development of the fetus during pregnancy and permits optimal growth and brain development after birth.
Psychological and behavioural characteristics
| How is it treated? 
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