An autosomal recessive disorder due to defects in biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; ; ; visual compromise; ; progressive degeneration of the and the . Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.
Maladie de Zellweger /
Syndrome cérébro-hépato-rénal /
Syndrome de Zellweger-like /