Browse
Explore conditions, clinical trials, and the organisations running them.
Up to: Mendelian neurodevelopmental disorder
HNRNPC-related neurodevelopmental disorder
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.