To date, at least 15 genes have been identified to be accompanied with CHH, which include ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF1A, HNF4A, HK1, PGM1, PMM2, FOXA2, CACNA1D and EIF2S3. The gene discussed is FOXA2; the disease is cartilage-hair hypoplasia.