PKHD1 and kidney disorder: Confirmed pathogenic variants included COL4A5 (c.4706G > A, p. Arg1569Gln), COL4A3 (c.3829G > A, p. Gly1277Ser), FREM1 (c.4346G > A, p. Gly1449Glu), and PKHD1 (c.4870C > T, p. Arg1624Trp), reinforcing their established roles in syndromic and recessive kidney disorders.