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GENATLAS PHENOTYPE
last update : 24-10-2011
Symbol COACH2
Location 16q12.2
Name COACH syndrome 2
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)