| OMIM phenotype MIM number | 607091 |
| OMIM disease name | CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId |
| Disease name (from UMLS sources) | Congenital disorder of glycosylation type 2D (GTR) |
| Disease definition (from UMLS sources) | Congenital disorders of N-linked glycosylation (abbreviated here as CDG-N-linked), are a group of disorders of N-linked oligosaccharides caused by deficiency in 42 different enzymes in the N-linked synthetic pathway. Most commonly, the disorders begin in infancy; manifestations range from severe developmental delay and hypotonia with multiple organ system involvement to hypoglycemia and protein-losing enteropathy with normal development. However, most types have been described in only a few individuals, and thus understanding of the phenotypes is limited. In PMM2-CDG (CDG-Ia), the most common type reported, the clinical presentation and course are highly variable, ranging from death in infancy to mild involvement in adults. (GeneReviews) |
| Symptoms, signs and abnormal clinical and laboratory findings (from MedGen sources) |
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