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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:0000252 | Microcephaly |
| HP:0000340 | Sloping forehead |
| HP:0000639 | Nystagmus |
| HP:0000737 | Irritability |
| HP:0001251 | Ataxia |
| HP:0001263 | Global developmental delay |
| HP:0001344 | Absent speech |
| HP:0001347 | Hyperreflexia |
| HP:0001394 | Cirrhosis |
| HP:0001433 | Hepatosplenomegaly |
