Conditions / Genetic
thyroid dyshormonogenesis 4
info · Genetic
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in IYD on chromosome 6q25.1.
Signs and symptoms
- Hypothyroidism
- Growth delay
- Goiter
- Intellectual disability
Also known as: TDH4; deiodinase deficiency; genetic defect in thyroid hormonogenesis 4; iodotyrosine dehalogenase deficiency