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Zellweger SyndromeLegal notice  


Other terms
Zellweger's Syndrome,Zellwegers Syndrome,Zellweger Disease,Cerebro-Hepato-Renal Syndrome,Cerebro Hepato Renal Syndrome,Cerebro-Hepato-Renal Syndromes,Cerebrohepatorenal Syndrome,Cerebrohepatorenal Syndromes,Zellweger-Like Syndrome,Zellweger Like Syndrome

Description
Zellweger 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.



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Legal notice
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