MOGS-congenital disorder of glycosylation

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).

Also known as: CDG syndrome type IIb, CDG-IIb, CDG2B, MOGS-CDG, MOGS-congenital disorder of glycosylation, carbohydrate deficient glycoprotein syndrome type IIb, congenital disorder of glycosylation type 2b, congenital disorder of glycosylation type IIb

0 clinical trials for this condition and its sub-types, 0 tagged with MOGS-congenital disorder of glycosylation itself.