has material basis in germline mutation in ALG3 congenital disorder of glycosylation type I ALG3-congenital disorder of glycosylation https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_id OMIM:601110 CDG Id CDGS4 (formerly) CDGS, type IV, formerly ALG3-CDG ALG3-congenital disorder of glycosylation carbohydrate-deficient glycoprotein syndrome type IV (formerly) NCIT:C126870 congenital disorder of glycosylation type Id UMLS:C1832736 mannosyltransferase 6 deficiency CDG-Id A form of congenital disorders of N-linked glycosylation characterized by severe neurological involvement, including hypotonia, developmental delay, intellectual disability, postnatal microcephaly, and progressive brain and cerebellar atrophy. Epilepsy with hypsarrythmia is frequently reported. Additional features that may be observed include failure to thrive, arthrogryposis multiplex congenita (AMC), vision impairment (optic atrophy, iris coloboma) and facial dysmorphism (hypertelorism with a broad nasal bridge, large and thick ears, thin lips, micrognathia). The disease is caused by loss of function mutations of the gene ALG3 (3q27.3). carbohydrate-deficient glycoprotein syndrome, type IV, formerly MONDO:0010998 CDGS, type IV CDG syndrome type Id MEDGEN:322026 SCTID:720976009 Orphanet:79321 congenital disorder of glycosylation type 1d carbohydrate deficient glycoprotein syndrome type Id GARD:0009827 CDGId carbohydrate-deficient glycoprotein syndrome, type IV ALG3-CDG (CDG-Id) congenital disorder of glycosylation, type Id CDG1D MESH:C535742 CDG 1D DOID:0080556 disorder of protein N-glycosylation