Zellweger Syndrome


Cerebro Hepato Renal Syndrome

Cerebro-Hepato-Renal Syndrome

Cerebrohepatorenal Syndrome


Peroxisome Biogenesis Disorders, Zellweger Syndrome Spectrum

Spectrum, Zellweger

Zellweger Disease

Zellweger Like Syndrome

Zellweger Spectrum

Zellweger Syndrome Spectrum

Zellweger's Syndrome

Zellweger-Like Syndrome

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.