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GENATLAS PHENOTYPE

last update : 20-11-2009

Symbol	CDG1I
Location	9q22.33
Name	congenital disorder of glycosylation, type 1I
Corresponding gene	ALG2
Main clinical features	colobomas of the iris, with cataract, multisystem disorder with mental retardation, seizures, hypomyelination, hepatomegaly, and coagulation abnormalities
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
Type	disease

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