label: HNRNPC-related neurodevelopmental disorder
label_lc: hnrnpc-related neurodevelopmental disorder
description: Any neurodevelopmental disorder in which the cause of the disease is a variation in the HNRNPC gene. It is characterized by global developmental delay, intellectual disability, behavioral abnormalities, and subtle facial dysmorphism. It is caused by heterozygous HNRNPC germline variants.