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GENATLAS PHENOTYPE

last update : 02-01-2019

Symbol	CDG2Q
Location	1q42.2
Name	congenital disorder of glycosylation, type IIQ
Corresponding gene	COG2
Main clinical features	normal early development in the first months of life, but later delayed development, acquired microcephaly, and spastic quadriplegia; generalized tonic seizures brain imaging showed diffuse cerebral atrophy, and variable other abnormalities associated with liver dysfunction and abnormal glycosylation
Genetic determination	autosomal recessive
Function/system disorder	metabolism/carbohydrates
	neurology
Type	disease

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