has material basis in germline mutation in MOGS congenital disorder of glycosylation type II MOGS-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iib CDG syndrome type IIb carbohydrate deficient glycoprotein syndrome type IIb GCS1-CDG MOGS-CDG MONDO:0011629 MESH:C565264 MOGS-congenital disorder of glycosylation glucosidase 1 deficiency MEDGEN:342954 OMIM:606056 UMLS:C1853736 MOGS-CDG is a form of congenital disorders of N-linked glycosylation characterized by generalized hypotonia, craniofacial dysmorphism (prominent occiput, short palpebral fissures, long eyelashes, broad nose, high arched palate , retrognathia), hypoplastic genitalia, seizures, feeding difficulties, hypoventilation, severe hypogammaglobulinemia with generalized edema, and increased resistance to particular viral infections (particularly to enveloped viruses). The disease is caused by loss-of-function mutations in the gene MOGS (2p13.1). SCTID:725028009 CDG-IIb congenital disorder of glycosylation type 2b CDG 2B GARD:0010767 Orphanet:79330 MOGS-CDG (CDG-IIb) congenital disorder of glycosylation, type IIb DOID:0070254 congenital disorder of glycosylation type IIb CDG2B disorder of protein N-glycosylation