congenital nongoitrous hypothyroidism 5

A congenital hypothyroidism that has_material_basis_in heterozygous mutation in the NKX2-5 gene on chromosome 5q35.

Signs and symptoms

• Decreased circulating free T4 concentration
• Elevated circulating thyroid-stimulating hormone concentration
• Hypothyroidism
• Ectopic thyroid
• Thyroid hypoplasia
• Severe intellectual disability
• Congenital hypothyroidism
• Growth delay
• Intellectual disability
• Thyroid agenesis

Also known as: CHNG5