PMM2
| Deellabo: | PGD DNA |
| Gen (Gen Code): | PMM2 |
| Aliases Gen: | CDG1; CDGS; CDG1a; PMM 2; PMM2 |
| Gen ID (NCBI): | 5373 |
| OMIM Gen ID: | 601785 |
| Chromosomale locatie: | 16p13.2 |
| Genetische aandoening / Analyse: | Congenitale aandoening van glycosylatie, type IA (CDG1A) |
| OMIM aandoening ID: | 212065 |
| Overerving: | AR |
| Aliases aandoening: | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A CDG Ia; CDGIa JAEKEN SYNDROME PHOSPHOMANNOMUTASE 2 DEFICIENCY CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY |