ORC6 and Mungan syndrome: The ORC6 protein is known to have various isoforms, some of which have a putative later start position (e.g., the H3BT22 potential isoform that is computationally mapped in the UniProt database [15], and several isoforms are described in the GTEx database [16] and Ensembl [17]) and thus do not encompass the mutated c.2T>C or c.1A>G base pair that can be present in patients with MGS.