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References OMIM Gene GeneReviews HGMD HGNC
last update : 20/06/2008
Symbol MKS6
Location 4p15.33
Name Meckel syndrome, type 6
Corresponding gene CC2D2A
Main clinical features
  • an occipital meningo-oncephalocele with multicystic enlarged kidneys liver fibrosis, typically manifesting as impeded development of the intrahepatic biliary system and ductal plate malformation and frequent post-axial polydactyly, cleft lip/palate, laterality defects and congenital heart malformations including dextrocardia, shortening and bowing of the long tubular bones and abnormal development of the male genitalia
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease