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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-02-2016
Symbol CDG2K
Location 4q12
Name congenital disorder of glycosylation type IIk
Corresponding gene TMEM165
Main clinical features
  • psychomotor retardation and growth retardation, with short stature
  • dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia,including osteoporosis and epiphyseal, metaphyseal, and diaphyseal dysplasia
  • serum transferrin analysis shows a CDG type II pattern
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease