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GENATLAS PHENOTYPE
last update : 25-08-2011
Symbol COACH3
Location 8q22.1
Name COACH syndrome 3
Corresponding gene TMEM67
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
    Function/system disorder digestive tract/liver and annex
    eye
    neurology
    Type disease
    Remark(s)