Barth Syndrome, X-linked (TAZ)

Barth syndrome is an X-linked recessive disorder caused by pathogenic variants in the gene TAZ. This disorder can display intra-familial variability, with affected males experiencing cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay, and distinctive facial gestalt, which is most evident in infancy. It is also associated with miscarriages and stillbirths. While the disorder as a whole has no specific treatment, individual symptoms can be treated, and some may show improvement with age. While early diagnosis and treatment are necessary for the management of this disorder, the life expectancy for this disorder remains moderate.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):