Use

The Walker-Warburg syndrome test offers molecular detection of one pathogenic variant in the FKTN gene, F390fs (c.1167dupA), which accounts for greater than 99% of Ashkenazi‑Jewish Walker‑Warburg syndrome pathogenic variants. Walker‑Warburg syndrome is an autosomal recessive multi‑system disorder which affects the development of the brain, muscles, and eyes. Clinical features include significant intellectual disability, increasing hypotonia, visual impairment, and early death.