has material basis in germline mutation in SECISBP2 peripheral hypothyroidism thyroid hormone metabolism, abnormal thyroid hormone metabolism, abnormal 1 https://www.malacards.org/card/thyroid_hormone_metabolism_abnormal_1 UMLS:C5676891 short stature-delayed bone age due to thyroid hormone metabolism deficiency 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:0800046 MESH:C566454 THMA1 MEDGEN:1801974 GARD:0017068 Orphanet:171706 OMIM:609698 thyroid hormone metabolism, abnormal