- OMIM ID
-
212065
- OMIM term:
- CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia; CDG1A
- Alternative terms:
-
CDG Ia; CDGIa
JAEKEN SYNDROME
PHOSPHOMANNOMUTASE 2 DEFICIENCY
CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME, TYPE Ia, FORMERLY
- (∗) Location:
- 16p13.2
- (†) Associated OMIM genes:
- PMM2
- (‡) Associated MGI genes:
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