ALG9-congenital disorder of glycosylation
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).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
ALG9-CDG
exact
ALG9-CDG (CDG-IL)
related
ALG9-congenital disorder of glycosylation
exact
CDG 1L
related
CDG syndrome type IL
exact
CDG-IL
exact
CDG1L
exact
carbohydrate deficient glycoprotein syndrome type 1L
exact
carbohydrate deficient glycoprotein syndrome type IL
related
congenital disorder of glycosylation type 1L
exact
congenital disorder of glycosylation type IL
related
congenital disorder of glycosylation, type IL
related
mannosyltransferase 7-9 deficiency
exact
SPAC1834.05