Recently, three homozygous loss-of-function (LoF) variants in LNPK were shown to cause a neurodevelopmental disorder (OMIM#618090) in four patients displaying global developmental delay (GDD)/intellectual disability (ID), epilepsy, corpus callosum hypoplasia and variable impairment of cerebellar development.9,10. The gene discussed is LNPK; the disease is neurodevelopmental disorder.