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Other Names for this Disease
- Cerebellar vermis hypo/aplasia, Oligophrenia, Ataxia congenital, Coloboma, and Hepatic fibrosis
- Joubert syndrome with congenital hepatic fibrosis
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mental retardation, liver problems (fibrosis), and difficulty with movement (ataxia). Some may also have an abnormality of the eye (called a coloboma) or abnormal eye movements (such as nystagmus). This condition is inherited in an autosomal recessive manner; 70% of cases are thought to be caused by mutations in the TMEM67 gene. COACH syndrome is considered a rare form of another condition, Joubert syndrome.COACH syndrome is a condition that mainly affects the brain and liver. Most individuals with COACH syndrome have
Last updated: 8/1/2012
- COACH syndrome. Online Mendelian Inheritance in Man. June 2010; http://omim.org/entry/216360. Accessed 7/26/2012.
- Joubert syndrome with hepatic defect. Orphanet. July 2011; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=1644&Disease_Disease_Search_diseaseGroup=COACH&Disease_Disease_Search_diseaseType=Pat&Disease(s)/group of diseases=Joubert-syndrome-with-hepatic-defect--COACH-syndrome-&title=Joubert-syndrome-with-hepatic-defect--COACH-syndrome-&search=Disease_Search_Simple. Accessed 7/26/2012.
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In Depth Information
- The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss COACH syndrome. Click on the link to go to OMIM and review these resources.
- PubMed is a searchable database of medical literature and lists journal articles that discuss COACH syndrome. Click on the link to view a sample search on this topic.