Parents

MBTPS2-related diseases are rare genetic conditions caused by spelling changes in the MBTPS2 gene. Affected individuals can have dry, abnormal skin, extreme light sensitivity, eye differences, cleft palate, structural heart differences, kidney and genital malformations, functional intestinal blockage, bone differences (malformations or fragility), structural brain differences, seizures, and developmental/learning differences. These conditions are inherited in an X-linked recessive manner, meaning that a single gene change is sufficient to cause disease in males and females with 1 genetic change can either be disease carriers with minimal/absent clinical features or can have significant disease depending on X-inactivation.