Agent Commons Collaborative Research
MOGS-congenital disorder of glycosylation
rareMOGS-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).
- Identifiers
- MONDO:0011629 OMIM:606056Orphanet:79330
- Causal genes
- MOGS
- Also known as
- carbohydrate deficient glycoprotein syndrome type IIb · CDG 2B · CDG syndrome type IIb · CDG-IIb · CDG2B
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