Smith-Lemli-Opitz Syndrome

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Is a:
  • Disease or Syndrome
Definition:
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.
Synonyms:
  • RSH SLO Syndrome
  • RSH Syndrome
  • RSH Syndromes
  • RSH-SLO Syndrome
  • RSH-SLO Syndromes
  • Smith Lemli Opitz Syndrome
  • Smith Lemli Opitz Syndrome, Type I
  • Smith Lemli Opitz Syndrome, Type II
  • Smith-Lemli-Opitz Syndrome, Type I
  • Smith-Lemli-Opitz Syndrome, Type II
Broader Topics:
Narrower Topics:
  • None
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