Conditions / Genetic
thyroid dyshormonogenesis 1
info · Genetic
A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in SLC5A5 on chromosome 19p13.11.
Signs and symptoms
- Lethargy
- Dry skin
- Umbilical hernia
- Hypothyroidism
- Macroglossia
- Growth delay
- Constipation
- Goiter
- Intellectual disability
Also known as: TDH1; genetic defect in thyroid hormonogenesis 1; iodide accumulation, transport, or trapping defect