Skip to Content

Clinical and Genetic Characterization of Patients Segregating Variants in KPTN, MINPP1, NGLY1, AP4B1, and SON Underlying Neurodevelopmental Disorders: Genetic and Phenotypic Expansion

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).