Rare Zebra

Rare disease search prototype built on Orphanet data

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ORPHA:300

Bifunctional enzyme deficiency

Body system
Inborn errors of metabolism
Inheritance pattern
Autosomal recessive
Typical age of onset
Infancy
Estimated prevalence
1-9 / 100 000 (Worldwide)
Rarity class
1-9 / 100 000

ORPHA:300 is classified under "Inborn errors of metabolism" in the Orphanet nomenclature.

Common signs