Combining homozygosity mapping and exome sequencing studies of consanguineous Bedouin kindred, as well as transfection experiments and zinc monitoring in HEK293 cells, we demonstrate that a bi‐allelic in‐frame 3bp deletion variant in SLC30A5, deleting isoleucine within the highly conserved cation efflux domain of the encoded ZnT5, results in lower cytosolic zinc concentrations, causing a syndrome of severe non‐progressive neonatal axial and limb hypotonia with high‐arched palate and respiratory failure. This evidence concerns the gene SLC30A5 and respiratory failure.