CDG-Id | Psychomotor retardation, epilepsy, postnatal microcephaly, optic
atrophy, iris coloboma, hyperinsulinemic hypoglycemia | Deficiency of Dol-P-Man:Man5-GlcNAc2-P-P-Dol mannosyltransferase | AR; OMIM 601110 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-Ie | Psychomotor retardation, epilepsy | Deficiency of GDP-Man: Dol-P-mannosyltransferase (Dol-P-Man
synthase I) | AR; OMIM 603503 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-If | Psychomotor retardation, growth retardation, ichthyosis | Deficiency of Lec35 | AR; OMIM 608799 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-Ig | Psychomotor retardation, facial dysmorphy, decreased serum IgG | Deficiency of Dol-P-Man: Man7-GlcNAc2-P-P-Dol mannosyltransferase | AR; OMIM 607143 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-Ih | Dysmorphy, multiorgan failure, protein-losing enteropathy | Deficiency of Dol-P-Glc:Glc1-Man9-GlcNAc2-P-P-Dol glucosyltransferase
(glucosyltransferase II) | AR; OMIM 608104 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-Ii | Psychomotor retardation, epilepsy, iris coloboma, cataract, dysmyelination | Deficiency of GDP-Man: Man1-GlcNAc2-P-P-Dol mannosyltransferase
(mannosyltransferase II) | AR; OMIM 607906 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-Ij | Psychomotor retardation, microcephaly, epilepsy, hypotonia | Deficiency of UDP- GlcNAc: Dol-P-GlcNAc-P transferase | AR; OMIM 608093 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-Ik | Psychomotor retardation, epilepsy, other variable features | Deficiency of GDP-Man: GlcNAc2-P-P Dol mannosyltransferase
(mannosyltransferase I) | AR; OMIM 608540 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-IL | Psychomotor retardation, epilepsy, microcephaly, hepatomegaly | Deficiency of Dol-P-Man: Man6-and Man8-GlcNAc2-P-P-Dol mannosyltransferase
(mannosyltransferase VII/IX) | AR; OMIM 608776 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-Im | Ichthyosis, hypotonia, dilated cardiomyopathy | Deficiency of dolichol kinase | AR; OMIM 610768 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-In | Psychomotor retardation, epilepsy, hepatomegaly | Deficiency of RFT1 (flippase) | AR; OMIM 611908 | Serum transferrin IEF; LLO analysis in fibroblasts; mutation
analysis | Symptomatic |
CDG-IIa | Psychomotor retardation, epilepsy, dysmorphy, gastrointestinal
disturbances | Deficiency of N-acetylglucosaminyl-transferase II | AR; OMIM 212066 | Serum transferrin IEF and glycan analysis; mutation analysis | Symptomatic |
CDG-IIb | Dysmorphy, hypotonia, epilepsy | Deficiency of glucosidase I | AR; OMIM 606056 | Urinary oligosaccharide analysis; serum transferrin glycan
analysis; mutation analysis | Symptomatic |
CDG-IIc | Psychomotor and growth retardation, dysmorphy, recurrent infections | Deficiency of GDP-fucose transporter | AR; OMIM 266265 | High neutrophilia; Bombay blood group; mutation analysis | Symptomatic |
CDG-IId | Psychomotor retardation, Dandy-Walker malformation, myopathy | Deficiency of beta-1,4 galactosyltransferase 1 | AR; OMIM 607091 | Serum transferrin IEF; enzymatic analysis; mutation analysis | Symptomatic |