CPLANE1 and Joubert syndrome: A review of the exome sequencing (ES) data for this proband revealed a known pathogenic splicing variant (c.3290-2A>G) in CPLANE1, a gene associated with JBTS (OMIM # 614615) and Orofaciodigital syndrome VI (OFD, OMIM # 277170) that share some clinical features such as the molar tooth sign, vermis hypoplasia, and developmental delay35.