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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… 
2015
2015
The diagnostic utility of exome sequencing in Joubert syndrome and related disorders
Correction to: Journal of Human Genetics (2013) 58, 113–115; doi: 10.1038/jhg.2012.117; published online 4 October 2012 Since the… 
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.
Review
2008
Review
2008
Mutations in RPGRIP1L: extending the clinical spectrum of ciliopathies.
knockout mice show a phenotype similar to that observed in foetuses with MKS. These findings, which were also demonstrated in a… 
2004
2004
Postnatal vascular growth in the cerebellar cortex of normal and protein-deprived rats
SummaryThe postnatal vascular growth in the cortex of vermis cerebelli folium IX of normal and pre- and postnatally protein… 
1988
1988
A Very Aggressive Form of Facial Hemangioma
Abstract: A 3‐month‐old girl had a massive, particularly aggressive mixed hemangioma involving the right hemiface. with severe… 
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
1975
1975
Mannosidosis: clinical and biochemical findings.
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