has material basis in germline mutation in ALG11 congenital disorder of glycosylation type I ALG11-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_ip MEDGEN:462263 SCTID:733085004 congenital disorder of glycosylation, type Ip ALG11-CDG (CDG-Ip) congenital disorder of glycosylation type 1p carbohydrate deficient glycoprotein syndrome type Ip CDG1P CDG syndrome type Ip CDG-Ip MONDO:0013349 Orphanet:280071 ALG11-CDG GARD:0012396 A form of congenital disorders of N-linked glycosylation characterized by facial dysmorphism (microcephaly, high forehead, low posterior hairline, strabismus), hypotonia, failure to thrive, intractable seizures, developmental delay, persistent vomiting and gastric bleeding. Additional features that may be observed include fat pads anomalies, inverted nipples, and body temperature oscillation. The disease is caused by mutations in the gene ALG11 (13q14.3). DOID:0080567 OMIM:613661 congenital disorder of glycosylation type Ip UMLS:C3150913 ALG11-congenital disorder of glycosylation disorder of protein N-glycosylation