For example, WFS1 and PAX6 gene mutations are usually associated with ophthalmic abnormalities, WFS1 and SLC19A2 with deafness, GLIS3 with hypothyroidism, GATA4 and GATA6 with cardiac abnormalities, EIF2A and SLC2A2 with hepatic dysfunction, HNF1B with kidney disease, IPEX, STAT1, STAT3, and LRBA with immune dysfunction, EIF2A with skeletal abnormalities, and KCNJ11, NEUROD1, PTF1A, IER3IP1, and CNOT1 with neurological abnormalities [13,26,27]. The gene discussed is PAX6; the disease is hypothyroidism.