The expression of CDK2 (by the independent samples t-test p-value 0.0087), IFITM1 (p-value 0.0203), CDKN1 (p-value 0.0113) and BCL2L1 (p-value 0.0255) differed significantly between the CHH patients and controls. The gene discussed is BCL2L1; the disease is cartilage-hair hypoplasia.