ALG9-CDG

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).

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Aliases

• ALG9-CDG
• ALG9-CDG (CDG-IL)
• carbohydrate deficient glycoprotein syndrome type 1L
• Carbohydrate deficient glycoprotein syndrome type IL
• carbohydrate deficient glycoprotein syndrome type IL
• CDG 1L
• CDG IL
• CDG syndrome type IL
• CDG-IL
• CDG1L
• Congenital disorder of glycosylation type 1L
• congenital disorder of glycosylation type 1L
• Congenital disorder of glycosylation type IL
• congenital disorder of glycosylation type IL
• congenital disorder of glycosylation, type IL
• Mannosyltransferase 7-9 deficiency
• mannosyltransferase 7-9 deficiency