Moreover, rather than clinical indexes, proteins, including FGF23, RET, IL18R1, and GNA14, were positively correlated with AMS symptom phenotypes, such as poor appetite, dyspnea, and lip cyanosis, between the AMS4k and nAMS4k groups (Supplementary Fig. 11b). The gene discussed is RET; the disease is ablepharon macrostomia syndrome.