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Zellweger syndrome

Pronunciation: zel'weg-er

Definition: a metabolic disorder with neonatal onset, characterized by distinctive facies, muscular hypotonia, hepatomegaly with jaundice, renal cysts, epiphyseal stippling of the patellae, cerebral dysmyelination, and neuronal migration defects and psychomotor retardation; there is a perturbation in peroxisomal biogenesis; autosomal recessive inheritance, caused by mutation in any one of several peroxin (PEX) genes on chromosome 6, 7, 8, or 12.

Synonym(s): cerebrohepatorenal syndrome

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© Copyright 2017 Wolters Kluwer. All Rights Reserved. Review Date: Sep 19, 2016.
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