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GENATLAS PHENOTYPE

last update : 24-10-2011

Symbol	COACH1
Location	4p15.3
Name	COACH syndrome 1
Corresponding gene	CC2D2A
Main clinical features	cerebellar vermis hypo/aplasia, oligophrenia (mental retardation), ataxia, ocular coloboma, and hepatic fibrosis subtype of Joubert syndrome with congenital hepatic fibrosis
Genetic determination	autosomal recessive
Function/system disorder	digestive tract/liver and annex
	eye
	neurology
Type	disease

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