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congenital disorder of glycosylation type IIq
Summary
- Synonym
-
- CDG IIq
- CDG2Q
- CDGIIdq
- COG2-CDG
- COG2-related congenital disorder of glycosylation
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG2 gene on chromosome 1q42.2.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070269
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0012506 | Small pituitary gland |
| HP:0002361 | Psychomotor deterioration |
| HP:0005484 | Secondary microcephaly |
| HP:0003593 | Infantile onset |
| HP:0001252 | Hypotonia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001263 | Global developmental delay |
| HP:0012345 | Abnormal glycosylation |
