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References OMIM Gene GeneReviews HGMD HGNC
last update : 17-01-2015
Symbol CDG1S
Location Xq23
Name congenital disorder of glycosylation, type IS
Corresponding gene ALG13
Main clinical features
  • refractory epilepsy with polymorphic seizures, hepatomegaly, swelling of hand, foot, and eyelid, recurrent infections, increased bleeding tendency, microcephaly, horizontal nystagmus, bilateral optic nerve atrophy, and extrapyramidal and pyramidal signs.
  • laboratory studies showed prolonged APPT; transferrin isoelectric focusing showed abnormal N-glycosylation and was consistent with CDG type I
  • Genetic determination sex linked
    Function/system disorder neurology
    Type disease