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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

Related topics

Related topics

29 relations
Aggressive behaviorArima syndromeAtaxiaAutosomal recessive inheritance

Broader (7)

CerebellumCystic Kidney DiseasesEye AbnormalitiesHereditary Diseases

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Homozygosity for the c.428delG variant in KIAA0586 in a healthy individual: implications for molecular testing in patients with Joubert syndrome
Background Joubert syndrome (JBTS) is a rare neurodevelopmental disorder with marked phenotypic variability and genetic… 
2012
2012
3D spheroid defects in NPHP knockdown cells are rescued by the somatostatin receptor agonist octreotide.
Ciliopathies are a heterogeneous group of diseases that exhibit broad clinical phenotypes, including renal cysts, retinal… 
2010
2010
Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype
Leber congenital amaurosis (LCA) is the earliest and most severe retinal degeneration. It may present as a congenital stationary… 
Review
2009
Review
2009
Focus on molecules: RPGRIP1.
2008
2008
Species differences in the expression of Ahi1, a protein implicated in the neurodevelopmental disorder Joubert syndrome, with preferential accumulation to stigmoid bodies
Joubert syndrome (JBTS) is an autosomal recessive disorder characterized by cerebellum and brainstem malformations. Individuals… 
2004
2004
Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: functional magnetic resonance imaging (MRI) study.
Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, and a distinctive… 
2002
2002
Search for genes involved in Joubert syndrome: evidence that one or more major loci are yet to be identified and exclusion of candidate genes EN1, EN2, FGF8, and BARHL1.
Joubert syndrome (JS) is a rare autosomal recessive malformation syndrome involving agenesis or dysgenesis of the cerebellar… 
1997
1997
Lipomatose encéphalo-crânio-cutanée
Introduction. Nous rapportons un cas de lipomatose encephalo-crânio-cutanee associant deux lipomes du scalp a un lipome… 
1986
1986
Joubert syndrome associated with unilateral ptosis and Leber congenital amaurosis.
Highly Cited
1982
Highly Cited
1982
The central noradrenergic system in the rat: Metabolic mapping with α-adrenergic blocking agents
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