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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
congenital disorder of glycosylation Ix
Summary
- Synonym
-
- congenital disorder of glycosylation 1x
- Definition
- A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23.
- Super Class
- autosomal recessive disease congenital disorder of glycosylation type I
External Links
- Disease Ontology
- DOID:0080573
- Mondo Disease Ontology
- ORDO
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source | Organism |
|---|---|---|---|---|
| 100380973 | stt3b.S | STT3B, catalytic subunit of the oligosaccharyltransferase complex S homeolog | Xenopus laevis (African clawed frog) | |
| 108718938 | stt3b.L | STT3B, catalytic subunit of the oligosaccharyltransferase complex L homeolog | Xenopus laevis (African clawed frog) |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0000046 | Small scrotum |
| HP:0001873 | Thrombocytopenia |
| HP:0000252 | Microcephaly |
| HP:0001249 | Intellectual disability |
| HP:0012345 | Abnormal glycosylation |
| HP:0001263 | Global developmental delay |
| HP:0001511 | Intrauterine growth retardation |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0001252 | Hypotonia |
| HP:0011461 | Fetal onset |
