congenital disorder of glycosylation type I ALG12-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_ig ALG12-CDG ALG12-CDG (CDG-Ig) NCIT:C126873 MEDGEN:443954 ALG12-congenital disorder of glycosylation congenital disorder of glycosylation type 1g carbohydrate deficient glycoprotein syndrome type Ig Orphanet:79324 congenital disorder of glycosylation type Ig MESH:C535745 DOID:0080559 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). mannosyltransferase 8 deficiency SCTID:711155008 UMLS:C2931001 ICD9:271.8 CDG1G CDG syndrome type Ig GARD:0009833 CDG 1G OMIM:607143 CDGIg congenital disorder of glycosylation, type Ig CDG-Ig MONDO:0011783 disorder of protein N-glycosylation obsolete_ALG12-CDG