Children with Smith-Lemli-Opitz syndrome exhibit developmental abnormalities due to deficits in LDL particles and lack of cholesterol production.

“Smith Laemmle op it's syndrome which is a polymorphism the enzyme that makes 70 hydro cholesterol actually it reduces 70 hydro cholesterol and 70 hydro cholesterol reductase and it's a rare genetic syndrome”

“this is a syndrome smith lemley oppet syndrome this is what happens when there is a mutation in one of the enzymes necessary to make cholesterol unfortunately these kids are born small heads intellectual disability behavioral problems autism malformations of the heart lung kidneys gi attack genitalia they have weak muscle tone feeding difficulties grow more slowly they have few second and third toes which is called syndactyly some of them have polydactyly which is extra toes they may usually not live to adulthood now the causes mutation in the dhcr gene provides instructions for making enzymes called seven dehydrocholesterol reductase that is an enzyme right here at the end of the cholesterol synthesis pathway”

“Smith lopit syndrome which is an inborn error of cholesterol synthesis it's autosomal recessive and it is in the enzyme 70 hydroch cholesterol reductase produced by the dhcr7 genes uh according to Wikipedia which is a fairly accurate article uh it causes a broad spectrum of effects ranging from uh mild intellectual disability and behavioral problems to lethal malformations”