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ALG9-congenital disorder of glycosylation

MONDO:0012117

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).

Also known as: ALG9-CDG, ALG9-congenital disorder of glycosylation, CDG syndrome type IL, CDG-IL, CDG1L, carbohydrate deficient glycoprotein syndrome type 1L, congenital disorder of glycosylation type 1L, mannosyltransferase 7-9 deficiency

26 clinical trials for this condition and its sub-types.

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Sub-types

Gillessen-Kaesbach-Nishimura syndrome (0)

Broader categories

Disease (618) Metabolic disease (215) Hereditary disease (172) Inborn errors of metabolism (42) Human disease (14) Congenital disorder of glycosylation (6) Disease of genetic or genomic mechanism (2) Glycoprotein metabolism disease (1) Congenital disorder of glycosylation type I (0) Disease by developmental or physiological process (0)
Trials to join now! 14 Not yet recruiting 3 Not yet finished but already full! 3 Completed 6
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