Endocrine, nutritional and metabolic diseases
Metabolic disorders
Autosomal recessive
11q23.3
Like all CDGs, which are caused by a shortage of precursor monosaccharide phosphate or deficiencies in the glycosyltransferases required for lipid-linked oligosaccharide precursor (LLO) synthesis, CDG Ij is caused by a defect in the formation of DPAGT1, the first dolichyl-linked intermediate of the protein N-glycosylation pathway. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference |
|---|---|---|---|---|---|---|---|---|---|
| 608093.1 | Saudi Arabia | Female | Yes | Yes | Seizure; Global developmental delay; Mic... Seizure; Global developmental delay; Microcephaly; Hypotonia  | NM_001382.4:c.729-4A>C | Heterozygous | Autosomal, Recessive | Monies et al. 2017 |