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GENATLAS PHENOTYPE
last update : 25/09/2006
Symbol CDG2A
Location 14q21
Name congenital disorder of glycosylation, type 2A
Other name(s)
  • carbohydrate-deficient glycoprotein syndrome, type IIa . congenital disorder of glycosylation, type IIa
  • Corresponding gene MGAT2
    Other symbol(s) CDGIIa, CDG2, CDGS2
    Main clinical features severe mental retardation, chronic feeding problems with severe diarrhea, growth retardation, distinctive dysmorphic features including a beaked nose, long philtrum, thin vermilion border of the upper lip, large ears, gum hypertrophy, and thoracic deformity, with abnormal ERG with both cones and rods affected
    Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    mental retardation
    Type disease
    Gene product
    Name mannoyl (alpha 1-6) glycoprotein beta -1,2-N-acetyl-glucosaminyltransferase (MGAT2)