TMEM67 and Meckel syndrome, type 3: The compound heterozygous variants of TMEM67: c.637C > T (p.R213C) and TMEM67: c.579delA (p.G195Dfs*27) were identified and likely agreed with the Meckel Gruber syndrome type 3 (MKS3, MIM #607316), which segregated from the asymptomatic parents (Figure 3).