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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:0001397 | Hepatic steatosis |
| HP:0003642 | Type I transferrin isoform profile |
| HP:0000958 | Dry skin |
| HP:0009125 | Lipodystrophy |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0000832 | Primary hypothyroidism |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0002019 | Constipation |
| HP:0012758 | Neurodevelopmental delay |
| HP:0001290 | Generalized hypotonia |
