Clinical, neuroimaging and molecular characteristics of -related neurodevelopmental disorders: an expanded series with functional characterisation and genotype-phenotype analysis.

Background: Variants in , affecting the regulatory B56δ subunit of protein phosphatase 2A (PP2A), have been identified in individuals with neurodevelopmental abnormalities. However, the molecular and clinical spectra remain incompletely understood.

Methods: Individuals with variants were enrolled through Simons Variation in Individuals Project/Simons Searchlight.