Joubert syndrome 6

Common Name(s)

Joubert syndrome 6

Joubert syndrome is an autosomal recessive disorder presenting with psychomotor delay, hypotonia, ataxia, oculomotor apraxia, and neonatal breathing abnormalities. Neuroradiologically, Joubert syndrome is characterized by peculiar malformation of the midbrain-hindbrain junction known as the 'molar tooth sign' (MTS) consisting of cerebellar vermis hypoplasia or aplasia, thick and maloriented superior cerebellar peduncles, and abnormally deep interpeduncular fossa ({4:Romano et al., 2006}). For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Joubert syndrome 6" for support, advocacy or research.

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Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

Last Updated: 24 Dec 2012

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Joubert syndrome 6" for support, advocacy or research.

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Joubert Syndrome and Related Disorders Foundation

Our mission is to serve individuals worldwide who are diagnosed with Joubert Syndrome and related disorders, their families and support networks by creating opportunities to connect with other families, researchers and/or medical professionals via a variety of mediums.

http://www.jsrdf.org

Last Updated: 24 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Joubert syndrome 6" returned 0 free, full-text research articles on human participants.

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The terms "Joubert syndrome 6" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.