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GENATLAS PHENOTYPE

last update : 09-01-2019

Symbol	CDG1Y
Location	Xq28
Name	congenital disorder of glycosylation, type I Y
Corresponding gene	SSR4
Main clinical features	at birth, microcephaly and respiratory distress; later in infancy, delayed development and hypotonia, and mild seizure disorder dysmorphic features included micrognathia, excess skin around the neck, increased fat pads biochemical studies showed a mildly abnormal carbohydrate-deficient transferrin profile suggestive of a type I CDG
Genetic determination	sex linked
Function/system disorder	mental retardation
	neurology
	metabolism/carbohydrates
Type	disease

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