Maladies peroxysomales

A novel PEX1 mutation in a Moroccan family with Zellweger spectrum disorders

“…These variable phenotypes are included within the ZSDs clinically characterized by hypotonia, development delay, intellectual deficiency, craniofacial dysmorphism, hearing impairment, vision abnormalities, liver and renal dysfunction, and sometimes epileptic seizures. 11,12 …”