Rs13078881

Profound biotinidase deficiency in two asymptomatic adults.

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.

Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children.


 * is_associated_with_disease::Alopecia
 * is_associated_with_disease::Optic atrophy
 * is_associated_with_disease::Exanthem
 * is_associated_with_disease::Biotinidase deficiency