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GTR Home > Conditions/Phenotypes > MOGS-congenital disorder of glycosylation


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). [from SNOMEDCT_US]

Available tests

36 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Genes See tests for all associated and related genes

  • Also known as: CDG2B, CWH41, DER7, GCS1, MOGS
    Summary: mannosyl-oligosaccharide glucosidase

Clinical features


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