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GENATLAS PHENOTYPE

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
	metabolism/carbohydrates
Type	disease

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