An autosomal recessive disorder of CHOLESTEROL metabolism. It is caused by a deficiency of 7-dehydrocholesterol reductase (DHCR7), the enzyme that converts 7-dehydrocholesterol to cholesterol, leading to an abnormally low plasma cholesterol. This syndrome is characterized by multiple congenital abnormalities, growth deficiency, and MENTAL RETARDATION.


Images

nature.com

nature.com
www.getdomainvids.com

Figure 1

Figure 1
www.scielo.br

with SLO-<b>syndrome</b> and the

with SLO-syndrome and the
www.metagene.de

Figure: Facial features and

Figure: Facial features and
corticalchauvinism.com

Child with <b>Smith</b>-<b>Lemli</b>-<b>Opitz</b>

Child with Smith-Lemli-Opitz
emedicine.medscape.com

<b>Síndrome de Smith</b>-<b>Lemli</b>-<b>Opitz</b>

Síndrome de Smith-Lemli-Opitz
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<b>Síndrome Smith</b>-<b>Lemli</b>-<b>Opitz</b>

Síndrome Smith-Lemli-Opitz
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bajos <b>de</b> colesterol y un

bajos de colesterol y un
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Dernière mise à jour: Septembre 2014