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. This evidence concerns the gene HK1 and cartilage-hair hypoplasia.