Among these 101 patients, they identified two homozygous missense variants involving TPO [NM_000547.4: c.1994G > A, p.(Arg665Glu)] and MMP2 [NM_004530.4: c.539 A > T, p.(Asp180Val)] in an individual with reported features of congenital hypothyroidism, multiple joint swellings and contractures, skin anomalies including brown skin pigmentation on side of abdomen and right upper arm, and hypospadias. Here, TPO is linked to congenital hypothyroidism.