has material basis in germline mutation in ALG12 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) 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). mannosyltransferase 8 deficiency SCTID:711155008 GARD:0009833 OMIM:607143 CDG-Ig NCIT:C126873 MEDGEN:443954 congenital disorder of glycosylation type 1g carbohydrate deficient glycoprotein syndrome type Ig Orphanet:79324 congenital disorder of glycosylation type Ig MESH:C535745 DOID:0080559 UMLS:C2931001 ICD9:271.8 CDG Ig CDG syndrome type Ig CDG1G CDG 1G CDGIg congenital disorder of glycosylation, type Ig MONDO:0011783 disorder of protein N-glycosylation