CHD7 and cartilage-hair hypoplasia: 1 Owing to partial information provided by the probands’ family, evidence for the genotype-phenotype co-segregation was unavailable, which could elaborate the contribution of CHD7 variants to these phenotypes besides CHH; 2 This comprehensive clinical analysis was retrospective, and loss of follow-up existed; therefore, the prevalence of phenotypes besides CHH may be underestimated in CHH patients with CHD7 variants.