total iodide organification defect; genetic defect in thyroid hormonogenesis 2A; thyroid hormone organification defect 2

Epidemiology

common

Pathology

• congenital hypothyroidism
• iodide taken up by the thyroid gland cannot be oxidized & bound to protein

Genetics

• associated with defects in thyroid peroxidase

More general terms

• enzyme deficiency

Database

• OMIM: https://mirror.omim.org/entry/274500