Current research efforts on CLCN3-related neurodevelopmental disorder are focused on expanding the understanding of the clinical spectrum, refining genotype–phenotype correlations, and clarifying the functional impact of different CLCN3 variants. Healthcare providers and researchers with patients harboring CLCN3 variants are encouraged to contribute clinical and genetic data. Collaborative efforts are critical for delineating the disorder and developing patient care guidelines.
If you have clinical data, genetic test results or interest in participating in collaborative research on CLCN3-related disease, please contact the lead moderator Pankaj Agrawal (pagrawal@miami.edu) or co-moderator Tzofia Drori (tnd35@miami.edu).
CLCN3