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GENATLAS PHENOTYPE
last update : 10/07/2006
Symbol CDG2C
Location 11p11.2
Name congenital disorder of glycosylation type 2C
Other name(s)
  • Rambam-Hasharon syndrome . leukocyte adhesion deficiency 2 . GDP-fucose transporter 1 deficiency . congenital disorder of glycosylation type IIc
  • Corresponding gene SLC35C1
    Other symbol(s) FUCT1D, LAD2, RHS
    Main clinical features
  • recurrent infection, typical dysmorphic features, Bombay blood phenotype, severe growth and psychomotor retardation
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease
    Gene product
    Name GDP-fucose transporter 1