Disorders
PMM2-CDG (CDG-Ia)
Synonym(s): Carbohydrate-Deficient Glycoprotein Syndrome, Type Ia, CDG1a, CDGIa, CDGS1a, Congenital Disorder of Glycosylation 1a, Congenital Disorder of Glycosylation Ia, Jaeken Syndrome
| Gene | Locus | Protein |
|---|---|---|
| PMM2 | 16p13 | Phosphomannomutase 2 |





