SLC26A1 and Global developmental delay: The genes with the largest percentage of reads from a newly discovered isoform include SLC26A1 (86%; kidney stones43 and musculoskeletal health44), CAMKMT (61%; hypotonia–cystinuria syndrome, neonatal seizures, severe developmental delay and so on45) and WDR4 (61%; microcephaly46 and Galloway–Mowat syndrome-6 (ref. 47)).