Parents

Individuals with changes in the PRR12 gene often have delayed cognitive and physical development, and structural eye problems such as complete absence of an eye, abnormally small eyes, or defects in the iris. Patients may be neurodiverse and be diagnosed with conditions such as autism, attention deficits. Birth differences in the heart and/or kidneys may be identified. The picture is variable among affected individuals even within the same family.

Prevalence/Inheritance
PRR12 mutations are thought to be very rare. PRR12-related disorders are most often seen as a “new” (de novo) event in the affected individual, not inherited from one of the parents, and hence tend to not repeat in subsequent pregnancies. There has been at least one family with an affected mother and daughter.