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Familial aplasia of the vermis

Known as: Cerebelloparenchymal Disorder IV, CORS1, syndrome joubert 
A rare genetic syndrome characterized by the hypoplasia or absence of the cerebellar vermis. Signs and symptoms include rapid breathing (hyperpnea… 
National Institutes of Health

Papers overview

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2018
2018
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked phenotypic variability and genetic… 
2012
2012
Ciliopathies are a heterogeneous group of diseases that exhibit broad clinical phenotypes, including renal cysts, retinal… 
2010
2010
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration. It may present as a congenital stationary… 
2008
2008
Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by cerebellum and brainstem malformations. Individuals… 
2004
2004
Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, and a distinctive… 
2002
2002
Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome involving agenesis or dysgenesis of the cerebellar… 
1997
1997
Introduction. Nous rapportons un cas de lipomatose encephalo-crânio-cutanee associant deux lipomes du scalp a un lipome…