thyroid dyshormonogenesis 3

A familial thyroid dyshormonogenesis that has_material_basis_in homozygous or compound heterozygous mutation in TG on chromosome 8q24.22.

Signs and symptoms

• Decreased circulating T4 concentration
• Short stature
• Dry skin
• Failure to thrive
• Decreased circulating free T4 concentration
• Aspiration
• Goiter
• Prolonged neonatal jaundice
• Multinodular goiter
• Delayed ability to walk

Also known as: TDH3; genetic defect in thyroid hormonogenesis 3