ALG12-congenital disorder of glycosylation
A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors. Additional features include hypogonadism with or without hypospadias in males, skeletal anomalies, seizures and cardiac anomalies in some cases. The disease is caused by loss of function mutations of the gene ALG12 (22q13.33).
MONDO:0005500
congenital disorder of glycosylation type I
is_a
MONDO:0017740
disorder of protein N-glycosylation
is_a
ALG12-CDG
exact
ALG12-CDG (CDG-Ig)
related
ALG12-congenital disorder of glycosylation
exact
CDG 1G
related
CDG syndrome type Ig
exact
CDG-Ig
exact
CDG1G
exact
CDGIg
exact
carbohydrate deficient glycoprotein syndrome type Ig
exact
congenital disorder of glycosylation type 1g
exact
congenital disorder of glycosylation type Ig
exact
congenital disorder of glycosylation, type Ig
related
mannosyltransferase 8 deficiency
exact
SPBC1734.12c