Professionals

DPYSL5gene syndrome is a rare genetic disorder with an as-yet-unknown prevalence in the general population. To date, only 19 cases have been documented in the scientific literature. The syndrome is often caused by de novomutations. In cases of familial inheritance, it follows an autosomal dominant pattern, with the DPYSL5 gene located on chromosome 2.

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