MAN1B1-congenital disorder of glycosylation
MAN1B1-congenital disorder of glycosylation
Definition
MAN1B1-CDG is a form of congenital disorders of N-linked glycosylation characterized by intellectual disability, delayed motor development, hypotonia and truncal obesity. Additional features include slight facial dysmorphism (hypertelorism, downslanting palpebral fissures, large, low-set ears, hypoplastic nasolabial fold, thin upper lip), hypermobility of the joints and skin laxity. The disease is caused by mutations in the gene MAN1B1 (9q34.3).
Also known as carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency, congenital disorder of glycosylation type 2 due to MAN1B1 deficiency, congenital disorder of glycosylation type II due to MAN1B1 deficiency, intellectual disability-truncal obesity syndrome, MAN1B1-CDG, MAN1B1-congenital disorder of glycosylation — per MONDO