cerebrohepatorenal syndrome
[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. ( CSP )]
UMLS (CSP) C0043459- Congenital Abnormality
- Disease or Syndrome
Relation/PAR: Abnormalities, Multiple
Genetic Condition
Kidney Disease
Hepatic Disorder
syndrome
PEROXISOMAL DISORDERS
congenital kidney disorder
congenital brain disorder
Genetic Condition
Kidney Disease
Hepatic Disorder
syndrome
PEROXISOMAL DISORDERS
congenital kidney disorder
congenital brain disorder
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