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GENATLAS PHENOTYPE

last update : 14-01-2025

Symbol	COACH3
Location	16q12.2
Name	COACH syndrome 3
Other name(s)	cerebellar vermis hypo/aplasia, oligophrenia (mental retardation), ataxia, ocular coloboma, and hepatic fibrosis subtype of Joubert syndrome with congenital hepatic fibrosis
Corresponding gene	RPGRIP1L
Genetic determination	autosomal recessive
Function/system disorder	digestive tract/liver and annex
	eye
	neurology
Type	disease

Remark(s)