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congenital disorder of glycosylation type IIj
Summary
- Synonym
-
- CDG IIj
- CDG syndrome type IIj
- CDG2J
- CDGIIdj
- COG4-CDG
- Carbohydrate deficient glycoprotein syndrome type IIj
- Congenital disorder of glycosylation type 2j
- Definition
- A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of the COG4 gene on chromosome 16q22.1.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type II
External Links
- Disease Ontology
- DOID:0070262
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002509 | Limb hypertonia |
| HP:0100874 | Thick hair |
| HP:0001347 | Hyperreflexia |
| HP:0006892 | Frontotemporal cerebral atrophy |
| HP:0000737 | Irritability |
| HP:0003155 | Elevated circulating alkaline phosphatase concentration |
| HP:0011968 | Feeding difficulties |
| HP:0001531 | Failure to thrive in infancy |
| HP:0000340 | Sloping forehead |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
