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GENATLAS PHENOTYPE
last update : 07-12-2009
Symbol CDG2J
Location 16q22.1
Name congenital disorder of glycosylation, type IIJ
Corresponding gene COG4
Other symbol(s) CDGIIj
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
    Remark(s)