Conditions / Genetic
thyroid dyshormonogenesis 5
info · Genetic
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in DUOXA2 on chromosome 15q21.1.
Signs and symptoms
- Abnormality of metabolism/homeostasis
- Hypothyroidism
- Growth delay
- Goiter
- Intellectual disability
Also known as: TDH5; genetic defect in thyroid hormonogenesis 5