Mesh term Zellweger Syndrome
Browse to parent terms:Abnormalities, Multiple
Brain Diseases, Metabolic, Inborn
Kidney Diseases
Liver Diseases
Peroxisomal Disorders
Description
An autosomal recessive disorder due to defects in PEROXISOME 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; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.Search for this term in our Faculty Database
View this term at the NCBI website
