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References | OMIM | Gene | GeneReviews | HGMD | HGNC |
GENATLAS PHENOTYPE |
last update : 10/07/2006 |
Symbol | CDG2C |
Location | 11p11.2 |
Name | congenital disorder of glycosylation type 2C |
Other name(s) |
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Corresponding gene | SLC35C1 |
Other symbol(s) | FUCT1D, LAD2, RHS |
Main clinical features |
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Genetic determination | autosomal recessive |
Function/system disorder | metabolism/carbohydrates |
Type | disease |
Gene product |
Name | GDP-fucose transporter 1 |