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An autosomal recessive syndrome caused by mutations in the DHCR7 gene, encoding 7-dehydrocholesterol reductase, the enzyme responsible for the first step of cholesterol synthesis. The enzyme deficiency results in reduced production of steroid hormones and underdevelopment of male genitalia due to androgen deficiency. This condition may also be associated with microcephaly, developmental delay, characteristic facial anomalies, and syndactyly.
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