ALG12-CDG

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).

Aliases

ALG12-CDG
ALG12-CDG (CDG-Ig)
ALG12-congenital disorder of glycosylation
Carbohydrate deficient glycoprotein syndrome type Ig
carbohydrate deficient glycoprotein syndrome type Ig
CDG 1G
CDG Ig
CDG syndrome type Ig
CDG-Ig
CDG1G
CDGIg
Congenital disorder of glycosylation type 1g
congenital disorder of glycosylation type 1g
Congenital disorder of glycosylation type Ig
congenital disorder of glycosylation type Ig
congenital disorder of glycosylation, type Ig
Mannosyltransferase 8 deficiency
mannosyltransferase 8 deficiency