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.


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<b>Síndrome De Smith</b>-<b>Lemli</b>-<b>Opitz</b>;

Síndrome De Smith-Lemli-Opitz;
lookfordiagnosis.com

<b>SMITH</b>-<b>LEMLI</b>-<b>OPITZ SYNDROME</b>

SMITH-LEMLI-OPITZ SYNDROME
www.metagene.de

<b>Smith</b>-<b>Lemli</b>-<b>Opitz syndrome</b>

Smith-Lemli-Opitz syndrome
lookfordiagnosis.com

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

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

nejm199401133300205_f1.gif

nejm199401133300205_f1.gif
www.nejm.org

σύνδρομο <b>Smith Lemli Opitz</b>

σύνδρομο Smith Lemli Opitz
metavolismos.com

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

Smith-Lemli-Opitz
www.scielo.br

Iniesta pulls the strings for

Iniesta pulls the strings for
eventhussen.de

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Dernière mise à jour: Septembre 2014