SLC12A6 and Global developmental delay: In the last 4 years, there have been several case series and case reports describing patients with heterozygous variants in SLC12A6 and a broad phenotype ranging from severe cases with a childhood onset motor predominant axonal neuropathy and developmental delay similar to Alderman's syndrome through to a late onset (5th decade) sensory predominant peripheral neuropathy with no central nervous system involvement [23–26].