CEP120 mutations have been shown to cause JSRD and Jeune syndromes [16, 17], and overlapping ciliopathy phenotypes such as tectocerebellar dysraphia with occipital encephalocele (TCDOE), Meckel syndrome (MKS) and oro-facial-digital (OFD) syndromes [17]. Here, CEP120 is linked to Meckel syndrome, type 1.