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References OMIM Gene GeneReviews HGMD HGNC
last update : 25-02-2016
Symbol CDG2B
Location 2p13.1
Name congenital disorder of glycosylation, type 2B
Corresponding gene MOGS
Main clinical features
  • generalized hypotonia and hypomotility , dysmorphic features, including a prominent occiput, short palpebral fissures, long eyelashes, broad nose, retrognathia, high arched palate, generalized edema, and hypoplastic genitalia, hand anomalies;
  • occurrence of hepatomegaly, hypoventilation, feeding problems, seizures, and fatal outcome
  • Genetic determination autosomal recessive
    Function/system disorder metabolism/carbohydrates
    Type disease