Bi-allelic variants in NRDC cause a neurodevelopmental disorder characterized by neonatal lethality, microcephaly, and brain abnormalities

The study investigated the function of NRDC as a neurogenetic syndrome using a Drosophila model and affected individual-derived cells. Investigators from 10 different countries merged the efforts and identified 14 individuals with loss-of-function mutations in NRDC and presenting with severe neurodevelopment disorder and early lethality.