CTNNB1 syndrome is caused by disease-causing changes or a deletion of one of the copies of the CTNNB1 gene on chromosome 3.
The majority of the affected individuals are the only one in their family carrying the change, though inheritance from a parent has been occasionally reported.
CTNNB1 syndrome affects boys and girls equally. The severity of the condition is highly variable and not related to the gender of the affected individual.
CTNNB1