<p>(A) Pedigree of Family K with megalocornea-mental retardation (MMR) syndrome. Squares, males; circles, females; diamonds, unknown gender; shaded, affected; dotted, carrier; clear, unaffected. Arrowhead indicates proband. Sequence electropherograms show the <i>CHRDL1</i> missense mutation c.464G>A; p.(Cys155Tyr), which segregates in Family K. (B–C) The proband at ages 3, and 6 years, respectively, presented with bilateral megalocorneae, broad forehead, bilateral epicanthic folds, a tented upper lip, and downturned corners of the mouth. (D–E) Frontal and sides of the proband at age of 10 years.</p
