MAN1B1-CDG
Alternate names[edit | edit source]
Intellectual disability-truncal obesity syndrome; 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
Definition[edit | edit source]
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 geneMAN1B1 (9q34.3).
NIH genetic and rare disease info[edit source]
MAN1B1-CDG is a rare disease.
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