Neurodevelopmental disorders (NDDs) are heterogeneous genetic conditions of the central nervous system (CNS). […] In the study presented here, four consanguineous families (A-D), with members showing neurodevelopmental symptoms, were recruited for clinical and genetic characterization of the phenotypes. […] The present study expands the phenotypic and genetic spectrum of NDD-associated genes (KPTN, MINPP1, NGLY1, and AP4B1).