ORPHA:818

Smith-Lemli-Opitz syndrome

Also called 7-dehydrocholesterol reductase deficiency, RSH syndrome, SLOS

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Antenatal, Infancy, Neonatal

Estimated prevalence

1-9 / 100 000 (Europe)

Rarity class

1-9 / 100 000

ORPHA:818 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.