Other Names: CDG 1L; CDG1L; ALG9-CDG (CDG-IL); Congenital disorder of glycosylation, type Il ; CDG syndrome type IL; CDG-IL; Carbohydrate deficient glycoprotein syndrome type IL; Congenital disorder of glycosylation type 1L; Mannosyltransferase 7-9 deficiency; ALG9-CDG; Congenital disorder of glycosylation type IL; Carbohydrate deficient glycoprotein syndrome type 1L
A form of congenital disorders of N-linked glycosylation characterized by progressive microcephaly, hypotonia, developmental delay, drug-resistant infantile epilepsy, and hepatomegaly. Additional features that may be observed include failure to thrive, pericardial effusion, renal cysts, skeletal dysplasia, facial dysmorphism (frontal bossing, hypertelorism, depressed nasal bridge, low-seated ears, large mouth) and hydrops fetalis. The disease is caused by loss-of-function mutations in the gene ALG9 (11q23).
NIH genetic and rare disease info
ALG9-CDG (CDG-IL) is a rare disease. Script error: No such module "Navbox".