has material basis in germline mutation in COG5 syndromic disease congenital disorder of glycosylation type II COG5-congenital disorder of glycosylation https://rarediseases.info.nih.gov/diseases/1173/cdg-syndrome-type-3 https://www.malacards.org/card/congenital_disorder_of_glycosylation_type_iii SCTID:721100009 MONDO:0013325 congenital disorder of glycosylation, type III CDG-III MEDGEN:462226 CDG syndrome type III CDG III GARD:0012348 congenital disorder of glycosylation type III COG5-congenital disorder of glycosylation DOID:0070261 UMLS:C3150876 Orphanet:263487 CDG syndrome type 3 carbohydrate deficient glycoprotein syndrome type III CDG2I COG5-CDG COG5-CDG is an extremely rare form of CDG syndrome characterized clinically in the single reported case to date by moderate mental retardation with slow and inarticulate speech, truncal ataxia, and mild hypotonia. COG5-CDG (CDG-III) congenital disorder of glycosylation type 2i OMIM:613612 defect in conserved oligomeric Golgi complex