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GENATLAS PHENOTYPE
last update : 12/03/2008
Symbol CDG1N
Location 3p21.1
Name congenital disorder of glycosylation, type 1N
Corresponding gene RFT1
Main clinical features
  • marked developmental delay, hypotonia, seizures, hepatomegaly, and coagulopathy . accumulation of the lipid-linked oligosaccharides DolPP-GlcNAc2Man5 and severe protein underglycosylation
  • Genetic determination autosomal recessive
    Function/system disorder
    Type disease