Though he was not tested for CCDC40 gene, if the proband’s elder brother (II-2) was also a patient with the CCDC40-mutation, his clinical manifestations were very different from the proband (II-5) and his elder sister (II-1), which further shows the heterogeneity of CCDC40 associated PCD. The gene discussed is CCDC40; the disease is primary ciliary dyskinesia.