/MAN1B1-congenital disorder of glycosylation

MAN1B1-congenital disorder of glycosylation

Rare Disease

MONDO:0018349

Also Known As

MAN1B1-CDGMAN1B1-congenital disorder of glycosylationcarbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiencycongenital disorder of glycosylation type 2 due to MAN1B1 deficiencycongenital disorder of glycosylation type II due to MAN1B1 deficiencyintellectual disability-truncal obesity syndrome

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).