CHRDL1 and megalocornea-intellectual disability syndrome: Since megalocornea is a primary feature of MMR syndrome, we considered that in this affected male (Individual III:4 Family K, Figure 4), the megalocornea phenotype may be due to a mutation in CHRDL1. Sanger sequencing of CHRDL1 revealed a unique hemizygous missense mutation, c.464G>A, p.(Cys155Tyr) (Table 2) in the proband within a conserved cysteine-rich VWFC domain.