Smith-Lemli-Opitz Syndrome Definition

What is Smith-Lemli-Opitz Syndrome?

Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder that affects cholesterol metabolism. It is caused by a deficiency in the enzyme 7-dehydrocholesterol reductase (DHCR7), which is responsible for converting 7-dehydrocholesterol (7-DHC) to cholesterol.


Synonyms of Smith-Lemli-Opitz Syndrome

Smith Lemli Opitz Syndrome is also known as SLOS or 7-Dehydrocholesterol reductase deficiency syndrome.


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