Families

DPYSL5gene syndrome is a rare genetic disorder with an as-yet-unknown prevalence in the general population. Just a few patients have been documented worldwide.

This syndrome is often caused by de novomutations, meaning that they appear spontaneously in the affected individual. In cases of familial inheritance, it follows an autosomal dominant pattern, with a 50% risk of recurrence with each subsequent pregnancy.

This syndrome is characterized by a neurodevelopmental disorder that includes global developmental delay, intellectual disability of varying severity, and a range of brain malformations.