Congenital Nongoitrous Hypothryoidism 4 (TSHB)

Congenital nongoitrous hypothryoidism 4 is an autosomal recessive disorder caused by pathogenic variants in the gene TSHB. The onset of this disorder is at birth and causes defective growth and development in newborns, and can lead to mental and growth retardation in infants if left untreated. Additional phenotypes may include a depressed nasal bridge, muscular hypotonia, macroglossia, umbilical hernia, and omphalocele. The life expectancy for this disorder is normal if treated.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):