CDG-Syndrom Typ Ib, 1a
Congenital disorder of glycosylation type Ib, 1a
OMIM: 602579, 212065
Synonyme
- CDG Ib; CDGIb
- CDG
- GASTROINTESTINAL TYPE
- MANNOSEPHOSPHATE ISOMERASE DEFICIENCY MPI DEFICIENCY
- PROTEIN-LOSING ENTEROPATHY-HEPATIC FIBROSIS SYNDROME
- SAGUENAY-LAC SAINT-JEAN SYNDROME; SLSJ SYNDROME