SLC12A2 and neurodevelopmental disorder: Recently, a boy with a homozygous 22-kb deletion in SLC12A2 due to paternal parental isodisomy was described as the first convincing case of SLC12A2-related disease.11 A close resemblance with our proband includes reduced sweat, saliva, and tear fluid, cystic fibrosis–like respiratory problems, intestinal malrotation, a severe neurodevelopmental disorder, hearing impairment, and similar dysmorphic facial features.