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congenital disorder of glycosylation Ir
Summary
- Synonym
-
- congenital disorder of glycosylation 1r
- Definition
- A congenital disorder of glycosylation I that is characterized by failure to thrive, developmental delay, hypotonia, strabismus and hepatic dysfunction and has_material_basis_in compound heterozygous mutation in the DDOST gene on chromosome 1p36.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080569
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P39656 | Dolichyl-diphosphooligosaccharide--protein glycosyltransferase 48 kDa subunit |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001250 | Seizure |
| HP:0002910 | Elevated circulating hepatic transaminase concentration |
| HP:0001252 | Hypotonia |
| HP:0012450 | Chronic constipation |
| HP:0000486 | Strabismus |
| HP:0001410 | Decreased liver function |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0003593 | Infantile onset |
| HP:0001263 | Global developmental delay |
