Parents

PPFIA3-related neurodevelopment disorder are caused by changes in the PPFIA3 gene. The PPFIA3 gene makes a protein that helps brain cells communicate with each other. When this gene doesn't work properly, it can lead to problems with brain development and other body functions.

People with this syndrome may have developmental delays, learning problems, low muscle tone (hypotonia), unique facial features, dental differences, autism, smaller or larger head , and epilepsy (seizures), However, not everyone with a change in the PPFIA3 gene will have all these symptoms.

PPFIA3-related neurodevelopmental disorder occur in an autosomal dominant manner, meaning individuals with one copy of a pathogenic change in PPFIA3 can be affected with the condition.

Reported changes in the PPFIA3 gene are most often de novo, meaning they occurred sporadically and were not inherited from one parent.

PPFIA3-related neurodevelopmental disorder is a rare condition, with <50 individuals identified worldwide as of 2024.