ORPHA:79302

Congenital bile acid synthesis defect type 3

Also called BASD3, Oxysterol 7-alpha-hydroxylase deficiency

Body system

Inborn errors of metabolism

Inheritance pattern

Autosomal recessive

Typical age of onset

Infancy, Neonatal

Estimated prevalence

<1 / 1 000 000 (Worldwide)

Rarity class

<1 / 1 000 000

ORPHA:79302 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.