Parents

The genetic condition caused by disease-causing changes (mutations) in the ZNF148 gene is characterized by developmental delay, intellectual disability and abnormal development of the brain leading to specific changes of the brain structure. It is currently not known how many people are affected by this disorder, but the disorder is very rare. The inheritance of the ZNF148 gene-related disorder is, as far as we know now, always de novo. This means that the mutation is present in the affected child but generally not in the parents. If a ZNF148-related disorder has been identified in a child, a clinical geneticist can inform the parents about the chance that this disorder occurs in possible future children.