MOGS-CDG (CDG-IIb)
Other Names: CDG 2B; CDG2B; Congenital disorder of glycosylation, type IIb ; Congenital disorder of glycosylation type IIB; CDG-IIb; CDG syndrome type IIb; Congenital disorder of glycosylation type 2b; Glucosidase 1 deficiency; Carbohydrate deficient glycoprotein syndrome type IIb; GCS1-CDG; MOGS-CDG
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).
NIH genetic and rare disease info[edit source]
MOGS-CDG (CDG-IIb) is a rare disease.
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