thyroid hormone metabolism, abnormal 1
A rare, genetic congenital hypothyroidism disorder characterized by mild global developmental delay in childhood, short stature, delayed bone age, and abnormal thyroid and selenium levels in serum (high total and free T4 concentrations, low T3, high reverse T3, normal to high TSH, decreased selenium). Intellectual disability, primary infertility, hypotonia, muscle weakness, and impaired hearing have also been reported.
MONDO:0016412
peripheral hypothyroidism
is_a
MONDO:0031432
thyroid hormone metabolism, abnormal
is_a
THMA1
exact
short stature-delayed bone age due to thyroid hormone metabolism deficiency
exact
thyroid hormone metabolism, abnormal
broad