Home Page
References OMIM Gene GeneReviews HGMD HGNC
GENATLAS PHENOTYPE
last update : 26-01-2009
Symbol ZWS6
Location 6q23-q24
Name Zellweger cerebrohepatorenal syndrome, variant type 6
Other name(s) peroxisome biogenesis disorder, complementation group G
Corresponding gene PEX3
Main clinical features
  • characterized by facial dysmorphy, hepatomegaly, renal cysts, severe hypotonia, blindness, deafness and mental retardation
  • associated with an accumulation of very long chain fatty acid, branched chain fatty acids, abnormal bile intermediates, deficiency of plasmalogens and absent peroxisomes
  • Genetic determination
    Function/system disorder mental retardation
    neurology
    metabolism/peroxisomal
    Type disease
    Gene product
    Name peroxin 3
    Remark(s)