has material basis in germline mutation in ALG2 congenital disorder of glycosylation type I ALG2-congenital disorder of glycosylation carbohydrate-deficient glycoprotein syndrome type 1I Orphanet:79326 carbohydrate deficient glycoprotein syndrome type Ii ALG2-congenital disorder of glycosylation mannosyltransferase 2 deficiency UMLS:C1842836 OMIM:607906 CDG syndrome type Ii GARD:0009836 congenital disorder of glycosylation, type Ii CDG1I congenital disorder of glycosylation type 1i ALG2-CDG CDG Ii A form of congenital disorders of N-linked glycosylation characterized by iris coloboma, cataract, infantile spasms, developmental delay and abnormal coagulation factors. The disease is caused by loss-of-function mutations in the gene ALG2 (9q31.1). Transmission is autosomal recessive. CDG 1I MONDO:0011933 ALG2-CDG (CDG-II) DOID:0080561 congenital disorder of glycosylation type Ii MEDGEN:334618 disorder of protein N-glycosylation