Fig. 1: Pedigrees of all previously unreported families with inherited CLCN4 variants.

Filled square/circle = affected individual, lightly shaded circle/square = mildly affected individual, *familial *CLCN4 variant present in affected males, − familial CLCN4 variant absent in male, */− familial CLCN4 variant present in female, −/− familial CLCN4 variant absent in female. Pedigrees of families with a de novo variant are not shown.