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GENATLAS PHENOTYPE
last update : 18-11-2013
Symbol CDG1J
Location 11q23
Name congenital disorder of glycosylation, type 1J
Other name(s) carbohydrate deficient glycoprotein syndrome type 1J
Corresponding gene DPAGT1
Main clinical features
  • infantile spasms, developmental delay, microcephaly, arched palate, micrognathia, and exotropia, mental retardation
  • associated with fifth finger clinodactyly, single flexion creases of the hands, and skin dimples on the upper thighs, severe hypotonia and medically intractable seizures
    • Genetic determination autosomal recessive
    Function/system disorder
    metabolism/carbohydrates
    Type disease
    Gene product
    Name UDP-GlcNAc:dolichyl-phosphate N-acetylglucosamine phosphotransferase
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function Y170C
    Remark(s)