The diagnosis of Joubert syndrome was based on genetic testing of the one‐month‐old infant (heterozygous deletion of the chromosomal region chr5:122700179–122,758,727, encompassing exons 2–19 of the CEP120 gene, and the carrier status of the CEP120 copy number variant is confirmed by NGS‐CNV analysis and confirmed by q‐PCR) and on brain MRI findings (corpus callosum and cerebellar vermis hypoplasia, enlarged IVth ventricle communicating largely with cisterna magna, molar tooth sign on axial sections).4, 5, 6. Here, CEP120 is linked to Joubert syndrome.