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… (More)
National Institutes of Health

Related topics

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28 relations
Aggressive behaviorArima syndromeAtaxiaAutosomal recessive inheritance
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Broader (7)

CerebellumCystic Kidney DiseasesEye AbnormalitiesHereditary Diseases
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Papers overview

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Highly Cited
2011
Highly Cited
2011
Mapping the NPHP-JBTS-MKS Protein Network Reveals Ciliopathy Disease Genes and Pathways
Nephronophthisis (NPHP), Joubert (JBTS), and Meckel-Gruber (MKS) syndromes are autosomal-recessive ciliopathies presenting with… (More)
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Highly Cited
2010
Highly Cited
2010
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes
Joubert syndrome (JBTS), related disorders (JSRDs) and Meckel syndrome (MKS) are ciliopathies. We now report that MKS2 and CORS2… (More)
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Highly Cited
2009
Highly Cited
2009
A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies
Despite rapid advances in the identification of genes involved in disease, the predictive power of the genotype remains limited… (More)
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Highly Cited
2008
Highly Cited
2008
CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
Joubert syndrome (JS) is a developmental brain disorder characterized by cerebellar vermis hypoplasia, abnormal eye movement… (More)
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Highly Cited
2008
Highly Cited
2008
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Joubert syndrome (JS) and related disorders are a group of autosomal-recessive conditions sharing the "molar tooth sign" on axial… (More)
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Highly Cited
2007
Highly Cited
2007
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
Cerebello-oculo-renal syndrome (CORS), also called Joubert syndrome type B, and Meckel (MKS) syndrome belong to the group of… (More)
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Highly Cited
2007
Highly Cited
2007
The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Joubert syndrome (JS) is an autosomal recessive disorder characterized by cerebellar vermis hypoplasia associated with hypotonia… (More)
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Highly Cited
2007
Highly Cited
2007
Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
Meckel syndrome (MKS) is a rare autosomal recessive lethal condition characterized by central nervous system malformations… (More)
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Highly Cited
2004
Highly Cited
2004
The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Joubert syndrome (JS) is an autosomal recessive multisystem disease characterized by cerebellar vermis hypoplasia with prominent… (More)
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Highly Cited
1978
Highly Cited
1978
Uncommon syndromes of cerebellar vermis aplasia. I: Joubert syndrome.
Necropsy findings are reported for a case of Joubert syndrome (familiar aplasia of cerebellar vermis with episodic hyperpnea… (More)
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