Pathogenic variants in the KDM2B gene are expected to disrupt the function of the KDM2B protein. The precise mechanism is unknown , but this protein is known to play an important regulatory role during embryonic life and probably also after birth.
The KDM2B variants are inherited in an autosomal dominant matter, which means that both girls and boys can be affected, and children of affected parent have a 50% chance of inheriting the variant.
KDM2B