Id http://purl.bioontology.org/ontology/CSP/1849-1804
http://purl.bioontology.org/ontology/CSP/1849-1804
Preferred Name

cerebrohepatorenal syndrome

Definitions
autosomal recessive peroxisomal disorder, also known as Zellweger syndrome, that typically presents in the neonatal period and is usually fatal; clinical features include hypotonia, dysmorphic skull and facial bones, visual compromise, multifocal seizures, hepatomegaly, biliary dysgenesis, and swallowing difficulties; pathologically, there are migration deficits of the neocortex and degeneration of white matter tracts; Zellweger-like syndrome refers to conditions that phenotypically resemble neonatal Zellweger syndrome, but occur in childhood or adulthood.
Synonyms
congenital iron overload
Zellweger syndrome
Type http://www.w3.org/2002/07/owl#Class
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