Since Cep78 deprivation led to male infertility and sperm flagellar defects in mice, and CEP78 c.1629–2A>G mutation caused degradation of CEP78 protein in human, we thus investigated reproductive phenotype of the previously reported male patient, who carried homozygous CEP78 c.1629–2A>G mutation and was diagnosed with CRDHL (Fu, 2017). Here, CEP78 is linked to male infertility.