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Diagnostic Features of the Smith-Lemli-Opitz Syndrome

Specialty:

Genetics

Objective:

ICD-10:

Description:

A patient may be suspected of having the Smith-Lemli-Optiz Syndrome based on a constellation of physical findings, with confirmation by identifying an increase in plasma or serum 7-dehydrocholesterol (7DHC). The underlying defect is a deficiency in the enzyme 7DHC reductase (7DHCR).

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