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Zellwegerov syndróm

Subject h.	Zellwegerov syndróm
Subject h.	Zellweger Syndrome
Entry terms	syndróm cerebrohepatorenálny PBD, ZSS syndróm podobný Zellwegerovmu syndrómu poruchy biogenézy peroxizómov, spektrum Zellwegerovho syndrómu Zellwegerova choroba poruchy Zellwegerovho spektra Zellwegerovské spektrum poruchy Zellwegerovského spektra porucha peroxizomálna abiogenetická
English X references	Cerebrohepatorenal Syndrome Zellweger-Like Syndrome
Scope note in English	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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Number of the records: 1