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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:0003256 | Abnormality of the coagulation cascade |
| HP:0002079 | Hypoplasia of the corpus callosum |
| HP:0011967 | Decreased circulating copper concentration |
| HP:0001410 | Decreased liver function |
| HP:0010818 | Generalized tonic seizure |
| HP:0002506 | Diffuse cerebral atrophy |
| HP:0001249 | Intellectual disability |
| HP:0002510 | Spastic tetraplegia |
| HP:0010837 | Decreased circulating ceruloplasmin concentration |
| HP:0001999 | Abnormal facial shape |
