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Smith-Lemli-Opitz syndrome

Background

Smith-Lemli-Opitz syndrome (SLOS) is a multiple congenital abnormality syndrome first described in 1964. Thirty years later, SLOS became the first such syndrome to be identified as an 'inborn error of metabolism', in this case due to deficiency of the enzyme called 7-dehydrocholesterol reductase.

What are the symptoms? View What are the symptoms?

Medical text written July 2003 by Contact a Family. Approved July 2003 by Dr J Tolmie, Consultant Clinical Geneticist, Ferguson-Smith Centre for Clinical Genetics, Glasgow, UK.

 

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