MSeqDR Mitochondrial Disease Portal


 
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expandperoxisome biogenesis disorder (MONDO:0019234)
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..expandZellweger syndrome ()

       Child Nodes:
........expandperoxisome biogenesis disorder 10A (Zellweger) ()
........expandperoxisome biogenesis disorder 11A (Zellweger) ()
........expandperoxisome biogenesis disorder 12A (Zellweger) ()
........expandperoxisome biogenesis disorder 13A (Zellweger) ()
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........expandperoxisome biogenesis disorder 7A (Zellweger) ()
........expandperoxisome biogenesis disorder 8A (Zellweger) ()
........expandperoxisome biogenesis disorder 9B ()



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Further data from MedGen, OMIM,ClinVar, CTD
Term ID:19609
Name:Zellweger syndrome
Definition:Zellweger syndrome (ZS) is the most severe variant seen in the peroxisome biogenesis disorders, Zellweger syndrome spectrum (PBD-ZSS; see this term), characterized by neuronal migration defects in the brain, dysmorphic craniofacial features, profound hypotonia, neonatal seizures, and liver dysfunction.x
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Synonyms:cerebrohepatorenal syndrome; congenital iron overload; peroxisome biogenesis disorder; Zellweger leukodystrophy; ZS; ZWS
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Reference: MedGen:
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MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal