ALG6
Deellabo: | PGD DNA |
Gen (Gen Code): | ALG6 |
Aliases Gen: | CDG1C; ALG6 |
Gen ID (NCBI): | 29929 |
OMIM Gen ID: | 604566 |
Chromosomale locatie: | 1p31.3 |
Genetische aandoening / Analyse: | Congenitaal defect van glycosylatie type Ic |
OMIM aandoening ID: | 603147 |
Overerving: | AR |
Aliases aandoening: | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ic; CDG1C CDG Ic; CDGIc CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE I, WITH DEFICIENT GLYCOSYLATION OF DOLICHOL-LINKED OLIGOSACCHARIDE, FORMERLY TYPE V, FORMERLY; CDGS5, FORMERLY |