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GENATLAS PHENOTYPE

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