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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).
ORPHA:79330
Classification level: Disorder
- CDG syndrome type IIb
- CDG-IIb
- CDG2B
- Carbohydrate deficient glycoprotein syndrome type IIb
- Congenital disorder of glycosylation type 2b
- Congenital disorder of glycosylation type IIb
- Glucosidase 1 deficiency
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Infancy, Neonatal
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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- Research project(s) (66)
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Newborn screening