Figure 1

Pedigrees of affected families A–G, J and P. Filled square=affected male; Filled circle=affected female; *Familial CLCN4 variant present; wt, familial CLCN4 variant absent; NT, not tested. Note unaffected male IV:5 in family B has Klinefelter syndrome (47,XXY). Probands from families H, I, K, L, M, N and O (pedigrees not shown) have de novo variants.