has material basis in germline mutation in ALG6 congenital disorder of glycosylation type I ALG6-congenital disorder of glycosylation 1C https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_ic carbohydrate deficient glycoprotein syndrome type Ic CDG syndrome type Ic SCTID:709412006 carbohydrate-deficient glycoprotein syndrome type 1C ALG6 congenital disorder of glycosylation MONDO:0011291 Orphanet:79320 carbohydrate-deficient glycoprotein syndrome, type V, formerly carbohydrate-deficient glycoprotein syndrome, type V congenital disorder of glycosylation type 1C glucosyltransferase 1 deficiency congenital disorder of glycosylation type Ic NCIT:C126869 carbohydrate-deficient glycoprotein syndrome, type V (formerly) CDG-Ic OMIM:603147 carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide, formerly GARD:0009829 ALG6-CDG1C congenital disorder of glycosylation caused by mutation in ALG6 carbohydrate-deficient glycoprotein syndrome, type I, with deficient glycosylation of dolichol-linked oligosaccharide ALG6-CDG CDG1C ALG6-CDG (CDG-Ic) ALG6-congenital disorder of glycosylation 1C CDGS5 (formerly) MESH:C535741 UMLS:C2930997 A form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3). congenital disorder of glycosylation, type Ic CDG Ic MEDGEN:443952 carbohydrate-deficient glycoprotein syndrome, type 1 with deficient glycosylation of dolichol-linked oligosaccharide (formerly) CDGIc DOID:0080555 CDG 1C congenital disorder of glycosylation disorder of protein N-glycosylation