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.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
SPAC3H8.09c