Prenatal diagnosis of CLCN4-related neurodevelopmental disorder in fetuses with congenital brain anomalies.

This is the first report of a prenatal phenotype associated with variants in the CLCN4 gene. The diagnosis of the CLCN4-related neurodevelopmental disorder in this family allowed accurate genetic counselling and discussion of reproductive choices. It leaves uncertainty about the possibility of a postnatal neurodevelopmental phenotype in heterozygous females, which we discuss. This article is protected by copyright. All rights reserved.