/ALG9-congenital disorder of glycosylation

ALG9-congenital disorder of glycosylation

Rare Disease

MONDO:0012117

Also Known As

ALG9-CDGALG9-congenital disorder of glycosylationCDG syndrome type ILCDG-ILCDG1Lcarbohydrate deficient glycoprotein syndrome type 1Lcongenital disorder of glycosylation type 1Lmannosyltransferase 7-9 deficiencyALG9-CDG (CDG-IL)CDG 1LCDG ILcarbohydrate deficient glycoprotein syndrome type ILcongenital disorder of glycosylation type ILcongenital disorder of glycosylation, type IL

Definition

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).